SNP Links for Protein (Select 1034580093) - SNP

Links from Protein

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Select item 14907582281.

rs1490758228 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 12:18294005 (GRCh38)
12:18446939 (GRCh37)
Canonical SPDI:: NC_000012.12:18294004:TTTTT:TTTT
Gene:: PIK3C2G (Varview), LOC124902890 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.18294009del, NC_000012.11:g.18446943del, NG_050635.1:g.56045del, NM_004570.6:c.1028del, NM_004570.5:c.1028del, NM_004570.4:c.1028del, NM_001288772.2:c.1028del, NM_001288772.1:c.1028del, NM_001288774.2:c.362del, NM_001288774.1:c.362del, XM_017019478.3:c.1028del, XM_017019478.2:c.1028del, XM_017019478.1:c.1028del, XM_017019473.3:c.1028del, XM_017019473.2:c.1028del, XM_017019473.1:c.1028del, XM_011520701.3:c.1028del, XM_011520701.2:c.1028del, XM_011520701.1:c.1028del, XM_011520697.3:c.1028del, XM_011520697.2:c.1028del, XM_011520697.1:c.1028del, XR_931307.3:n.1366del, XR_931307.2:n.1263del, XR_931307.1:n.1207del, XM_017019475.2:c.1028del, XM_017019475.1:c.1028del, XM_017019471.2:c.1028del, XM_017019471.1:c.1028del, XM_047429007.1:c.1028del, XM_047429006.1:c.1028del, XM_047429008.1:c.1028del, XM_047429005.1:c.1028del, XM_047429010.1:c.362del, XM_047429009.1:c.1028del, NP_004561.3:p.Leu343fs, NP_001275701.1:p.Leu343fs, NP_001275703.1:p.Leu121fs, XP_016874967.1:p.Leu343fs, XP_016874962.1:p.Leu343fs, XP_011519003.1:p.Leu343fs, XP_011518999.1:p.Leu343fs, XP_016874964.1:p.Leu343fs, XP_016874960.1:p.Leu343fs, XP_047284963.1:p.Leu343fs, XP_047284962.1:p.Leu343fs, XP_047284964.1:p.Leu343fs, XP_047284961.1:p.Leu343fs, XP_047284966.1:p.Leu121fs, XP_047284965.1:p.Leu343fs

Select item 14896969132.

rs1489696913 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:18546328 (GRCh38)
12:18699262 (GRCh37)
Canonical SPDI:: NC_000012.12:18546327:G:A,NC_000012.12:18546327:G:T
Gene:: PIK3C2G (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.18546328G>A, NC_000012.12:g.18546328G>T, NC_000012.11:g.18699262G>A, NC_000012.11:g.18699262G>T, NG_050635.1:g.308364G>A, NG_050635.1:g.308364G>T, NM_004570.6:c.3363G>A, NM_004570.6:c.3363G>T, NM_004570.5:c.3363G>A, NM_004570.5:c.3363G>T, NM_004570.4:c.3363G>A, NM_004570.4:c.3363G>T, NM_001288772.2:c.3486G>A, NM_001288772.2:c.3486G>T, NM_001288772.1:c.3486G>A, NM_001288772.1:c.3486G>T, NM_001288774.2:c.2820G>A, NM_001288774.2:c.2820G>T, NM_001288774.1:c.2820G>A, NM_001288774.1:c.2820G>T, XM_017019473.3:c.3486G>A, XM_017019473.3:c.3486G>T, XM_017019473.2:c.3486G>A, XM_017019473.2:c.3486G>T, XM_017019473.1:c.3486G>A, XM_017019473.1:c.3486G>T, XM_011520697.3:c.3486G>A, XM_011520697.3:c.3486G>T, XM_011520697.2:c.3486G>A, XM_011520697.2:c.3486G>T, XM_011520697.1:c.3486G>A, XM_011520697.1:c.3486G>T, XM_017019475.2:c.3486G>A, XM_017019475.2:c.3486G>T, XM_017019475.1:c.3486G>A, XM_017019475.1:c.3486G>T, XM_017019471.2:c.3486G>A, XM_017019471.2:c.3486G>T, XM_017019471.1:c.3486G>A, XM_017019471.1:c.3486G>T, XM_017019479.2:c.1461G>A, XM_017019479.2:c.1461G>T, XM_017019479.1:c.1461G>A, XM_017019479.1:c.1461G>T, XM_047429007.1:c.3486G>A, XM_047429007.1:c.3486G>T, XM_047429006.1:c.3486G>A, XM_047429006.1:c.3486G>T, XM_047429008.1:c.3363G>A, XM_047429008.1:c.3363G>T, XM_047429005.1:c.3486G>A, XM_047429005.1:c.3486G>T, XM_047429010.1:c.2820G>A, XM_047429010.1:c.2820G>T, XM_047429009.1:c.3363G>A, XM_047429009.1:c.3363G>T

Select item 14882301313.

rs1488230131 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:18282170 (GRCh38)
12:18435104 (GRCh37)
Canonical SPDI:: NC_000012.12:18282169:C:A
Gene:: PIK3C2G (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.18282170C>A, NC_000012.11:g.18435104C>A, NG_050635.1:g.44206C>A, NM_004570.6:c.89C>A, NM_004570.5:c.89C>A, NM_004570.4:c.89C>A, NM_001288772.2:c.89C>A, NM_001288772.1:c.89C>A, NM_001288774.2:c.-571C>A, NM_001288774.1:c.-571C>A, XM_017019478.3:c.89C>A, XM_017019478.2:c.89C>A, XM_017019478.1:c.89C>A, XM_017019473.3:c.89C>A, XM_017019473.2:c.89C>A, XM_017019473.1:c.89C>A, XM_011520701.3:c.89C>A, XM_011520701.2:c.89C>A, XM_011520701.1:c.89C>A, XM_011520697.3:c.89C>A, XM_011520697.2:c.89C>A, XM_011520697.1:c.89C>A, XR_931307.3:n.427C>A, XR_931307.2:n.324C>A, XR_931307.1:n.268C>A, XM_017019475.2:c.89C>A, XM_017019475.1:c.89C>A, XM_017019471.2:c.89C>A, XM_017019471.1:c.89C>A, XM_047429007.1:c.89C>A, XM_047429006.1:c.89C>A, XM_047429008.1:c.89C>A, XM_047429005.1:c.89C>A, XM_047429010.1:c.-571C>A, XM_047429009.1:c.89C>A, NP_004561.3:p.Pro30His, NP_001275701.1:p.Pro30His, XP_016874967.1:p.Pro30His, XP_016874962.1:p.Pro30His, XP_011519003.1:p.Pro30His, XP_011518999.1:p.Pro30His, XP_016874964.1:p.Pro30His, XP_016874960.1:p.Pro30His, XP_047284963.1:p.Pro30His, XP_047284962.1:p.Pro30His, XP_047284964.1:p.Pro30His, XP_047284961.1:p.Pro30His, XP_047284965.1:p.Pro30His

Select item 14877472044.

rs1487747204 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 12:18503375 (GRCh38)
12:18656309 (GRCh37)
Canonical SPDI:: NC_000012.12:18503374:G:
Gene:: PIK3C2G (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.18503375del, NC_000012.11:g.18656309del, NG_050635.1:g.265411del, NM_004570.6:c.2988del, NM_004570.5:c.2988del, NM_004570.4:c.2988del, NM_001288772.2:c.3111del, NM_001288772.1:c.3111del, NM_001288774.2:c.2445del, NM_001288774.1:c.2445del, XM_017019473.3:c.3111del, XM_017019473.2:c.3111del, XM_017019473.1:c.3111del, XM_011520697.3:c.3111del, XM_011520697.2:c.3111del, XM_011520697.1:c.3111del, XM_017019475.2:c.3111del, XM_017019475.1:c.3111del, XM_017019471.2:c.3111del, XM_017019471.1:c.3111del, XM_017019479.2:c.1086del, XM_017019479.1:c.1086del, XM_047429007.1:c.3111del, XM_047429006.1:c.3111del, XM_047429008.1:c.2988del, XM_047429005.1:c.3111del, XM_047429010.1:c.2445del, XM_047429009.1:c.2988del, NP_004561.3:p.Lys996fs, NP_001275701.1:p.Lys1037fs, NP_001275703.1:p.Lys815fs, XP_016874962.1:p.Lys1037fs, XP_011518999.1:p.Lys1037fs, XP_016874964.1:p.Lys1037fs, XP_016874960.1:p.Lys1037fs, XP_016874968.1:p.Lys362fs, XP_047284963.1:p.Lys1037fs, XP_047284962.1:p.Lys1037fs, XP_047284964.1:p.Lys996fs, XP_047284961.1:p.Lys1037fs, XP_047284966.1:p.Lys815fs, XP_047284965.1:p.Lys996fs

Select item 14871012745.

rs1487101274 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:18424030 (GRCh38)
12:18576964 (GRCh37)
Canonical SPDI:: NC_000012.12:18424029:G:A
Gene:: PIK3C2G (Varview), LOC124902891 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000013/3 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.18424030G>A, NC_000012.11:g.18576964G>A, NG_050635.1:g.186066G>A, NM_004570.6:c.2372G>A, NM_004570.5:c.2372G>A, NM_004570.4:c.2372G>A, NM_001288772.2:c.2495G>A, NM_001288772.1:c.2495G>A, NM_001288774.2:c.1829G>A, NM_001288774.1:c.1829G>A, XM_017019478.3:c.2495G>A, XM_017019478.2:c.2495G>A, XM_017019478.1:c.2495G>A, XM_017019473.3:c.2495G>A, XM_017019473.2:c.2495G>A, XM_017019473.1:c.2495G>A, XM_011520701.3:c.2495G>A, XM_011520701.2:c.2495G>A, XM_011520701.1:c.2495G>A, XM_011520697.3:c.2495G>A, XM_011520697.2:c.2495G>A, XM_011520697.1:c.2495G>A, XR_931307.3:n.2833G>A, XR_931307.2:n.2730G>A, XR_931307.1:n.2674G>A, XM_017019475.2:c.2495G>A, XM_017019475.1:c.2495G>A, XM_017019471.2:c.2495G>A, XM_017019471.1:c.2495G>A, XM_017019479.2:c.470G>A, XM_017019479.1:c.470G>A, XM_047429007.1:c.2495G>A, XM_047429006.1:c.2495G>A, XM_047429008.1:c.2372G>A, XM_047429005.1:c.2495G>A, XM_047429010.1:c.1829G>A, XM_047429009.1:c.2372G>A, NP_004561.3:p.Arg791His, NP_001275701.1:p.Arg832His, NP_001275703.1:p.Arg610His, XP_016874967.1:p.Arg832His, XP_016874962.1:p.Arg832His, XP_011519003.1:p.Arg832His, XP_011518999.1:p.Arg832His, XP_016874964.1:p.Arg832His, XP_016874960.1:p.Arg832His, XP_016874968.1:p.Arg157His, XP_047284963.1:p.Arg832His, XP_047284962.1:p.Arg832His, XP_047284964.1:p.Arg791His, XP_047284961.1:p.Arg832His, XP_047284966.1:p.Arg610His, XP_047284965.1:p.Arg791His

Select item 14869184926.

rs1486918492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:18293997 (GRCh38)
12:18446931 (GRCh37)
Canonical SPDI:: NC_000012.12:18293996:C:G
Gene:: PIK3C2G (Varview), LOC124902890 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.18293997C>G, NC_000012.11:g.18446931C>G, NG_050635.1:g.56033C>G, NM_004570.6:c.1016C>G, NM_004570.5:c.1016C>G, NM_004570.4:c.1016C>G, NM_001288772.2:c.1016C>G, NM_001288772.1:c.1016C>G, NM_001288774.2:c.350C>G, NM_001288774.1:c.350C>G, XM_017019478.3:c.1016C>G, XM_017019478.2:c.1016C>G, XM_017019478.1:c.1016C>G, XM_017019473.3:c.1016C>G, XM_017019473.2:c.1016C>G, XM_017019473.1:c.1016C>G, XM_011520701.3:c.1016C>G, XM_011520701.2:c.1016C>G, XM_011520701.1:c.1016C>G, XM_011520697.3:c.1016C>G, XM_011520697.2:c.1016C>G, XM_011520697.1:c.1016C>G, XR_931307.3:n.1354C>G, XR_931307.2:n.1251C>G, XR_931307.1:n.1195C>G, XM_017019475.2:c.1016C>G, XM_017019475.1:c.1016C>G, XM_017019471.2:c.1016C>G, XM_017019471.1:c.1016C>G, XM_047429007.1:c.1016C>G, XM_047429006.1:c.1016C>G, XM_047429008.1:c.1016C>G, XM_047429005.1:c.1016C>G, XM_047429010.1:c.350C>G, XM_047429009.1:c.1016C>G, NP_004561.3:p.Ser339Cys, NP_001275701.1:p.Ser339Cys, NP_001275703.1:p.Ser117Cys, XP_016874967.1:p.Ser339Cys, XP_016874962.1:p.Ser339Cys, XP_011519003.1:p.Ser339Cys, XP_011518999.1:p.Ser339Cys, XP_016874964.1:p.Ser339Cys, XP_016874960.1:p.Ser339Cys, XP_047284963.1:p.Ser339Cys, XP_047284962.1:p.Ser339Cys, XP_047284964.1:p.Ser339Cys, XP_047284961.1:p.Ser339Cys, XP_047284966.1:p.Ser117Cys, XP_047284965.1:p.Ser339Cys

Select item 14868810357.

rs1486881035 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:18282106 (GRCh38)
12:18435040 (GRCh37)
Canonical SPDI:: NC_000012.12:18282105:C:A
Gene:: PIK3C2G (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.18282106C>A, NC_000012.11:g.18435040C>A, NG_050635.1:g.44142C>A, NM_004570.6:c.25C>A, NM_004570.5:c.25C>A, NM_004570.4:c.25C>A, NM_001288772.2:c.25C>A, NM_001288772.1:c.25C>A, NM_001288774.2:c.-635C>A, NM_001288774.1:c.-635C>A, XM_017019478.3:c.25C>A, XM_017019478.2:c.25C>A, XM_017019478.1:c.25C>A, XM_017019473.3:c.25C>A, XM_017019473.2:c.25C>A, XM_017019473.1:c.25C>A, XM_011520701.3:c.25C>A, XM_011520701.2:c.25C>A, XM_011520701.1:c.25C>A, XM_011520697.3:c.25C>A, XM_011520697.2:c.25C>A, XM_011520697.1:c.25C>A, XR_931307.3:n.363C>A, XR_931307.2:n.260C>A, XR_931307.1:n.204C>A, XM_017019475.2:c.25C>A, XM_017019475.1:c.25C>A, XM_017019471.2:c.25C>A, XM_017019471.1:c.25C>A, XM_047429007.1:c.25C>A, XM_047429006.1:c.25C>A, XM_047429008.1:c.25C>A, XM_047429005.1:c.25C>A, XM_047429010.1:c.-635C>A, XM_047429009.1:c.25C>A, NP_004561.3:p.Pro9Thr, NP_001275701.1:p.Pro9Thr, XP_016874967.1:p.Pro9Thr, XP_016874962.1:p.Pro9Thr, XP_011519003.1:p.Pro9Thr, XP_011518999.1:p.Pro9Thr, XP_016874964.1:p.Pro9Thr, XP_016874960.1:p.Pro9Thr, XP_047284963.1:p.Pro9Thr, XP_047284962.1:p.Pro9Thr, XP_047284964.1:p.Pro9Thr, XP_047284961.1:p.Pro9Thr, XP_047284965.1:p.Pro9Thr

Select item 14868416108.

rs1486841610 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:18290988 (GRCh38)
12:18443922 (GRCh37)
Canonical SPDI:: NC_000012.12:18290987:C:G
Gene:: PIK3C2G (Varview), LOC124902890 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.18290988C>G, NC_000012.11:g.18443922C>G, NG_050635.1:g.53024C>G, NM_004570.6:c.895C>G, NM_004570.5:c.895C>G, NM_004570.4:c.895C>G, NM_001288772.2:c.895C>G, NM_001288772.1:c.895C>G, NM_001288774.2:c.229C>G, NM_001288774.1:c.229C>G, XM_017019478.3:c.895C>G, XM_017019478.2:c.895C>G, XM_017019478.1:c.895C>G, XM_017019473.3:c.895C>G, XM_017019473.2:c.895C>G, XM_017019473.1:c.895C>G, XM_011520701.3:c.895C>G, XM_011520701.2:c.895C>G, XM_011520701.1:c.895C>G, XM_011520697.3:c.895C>G, XM_011520697.2:c.895C>G, XM_011520697.1:c.895C>G, XR_931307.3:n.1233C>G, XR_931307.2:n.1130C>G, XR_931307.1:n.1074C>G, XM_017019475.2:c.895C>G, XM_017019475.1:c.895C>G, XM_017019471.2:c.895C>G, XM_017019471.1:c.895C>G, XM_047429007.1:c.895C>G, XM_047429006.1:c.895C>G, XM_047429008.1:c.895C>G, XM_047429005.1:c.895C>G, XM_047429010.1:c.229C>G, XM_047429009.1:c.895C>G, NP_004561.3:p.Gln299Glu, NP_001275701.1:p.Gln299Glu, NP_001275703.1:p.Gln77Glu, XP_016874967.1:p.Gln299Glu, XP_016874962.1:p.Gln299Glu, XP_011519003.1:p.Gln299Glu, XP_011518999.1:p.Gln299Glu, XP_016874964.1:p.Gln299Glu, XP_016874960.1:p.Gln299Glu, XP_047284963.1:p.Gln299Glu, XP_047284962.1:p.Gln299Glu, XP_047284964.1:p.Gln299Glu, XP_047284961.1:p.Gln299Glu, XP_047284966.1:p.Gln77Glu, XP_047284965.1:p.Gln299Glu

Select item 14864249479.

rs1486424947 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:18563435 (GRCh38)
12:18716369 (GRCh37)
Canonical SPDI:: NC_000012.12:18563434:T:C
Gene:: PIK3C2G (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.18563435T>C, NC_000012.11:g.18716369T>C, NG_050635.1:g.325471T>C, NM_004570.6:c.3716T>C, NM_004570.5:c.3716T>C, NM_004570.4:c.3716T>C, NM_001288772.2:c.3839T>C, NM_001288772.1:c.3839T>C, NM_001288774.2:c.3173T>C, NM_001288774.1:c.3173T>C, XM_017019473.3:c.3839T>C, XM_017019473.2:c.3839T>C, XM_017019473.1:c.3839T>C, XM_011520697.3:c.3839T>C, XM_011520697.2:c.3839T>C, XM_011520697.1:c.3839T>C, XM_017019475.2:c.3839T>C, XM_017019475.1:c.3839T>C, XM_017019471.2:c.3839T>C, XM_017019471.1:c.3839T>C, XM_017019479.2:c.1814T>C, XM_017019479.1:c.1814T>C, XM_047429007.1:c.3839T>C, XM_047429006.1:c.3839T>C, XM_047429008.1:c.3716T>C, XM_047429005.1:c.3839T>C, XM_047429010.1:c.3173T>C, XM_047429009.1:c.3716T>C, NP_004561.3:p.Phe1239Ser, NP_001275701.1:p.Phe1280Ser, NP_001275703.1:p.Phe1058Ser, XP_016874962.1:p.Phe1280Ser, XP_011518999.1:p.Phe1280Ser, XP_016874964.1:p.Phe1280Ser, XP_016874960.1:p.Phe1280Ser, XP_016874968.1:p.Phe605Ser, XP_047284963.1:p.Phe1280Ser, XP_047284962.1:p.Phe1280Ser, XP_047284964.1:p.Phe1239Ser, XP_047284961.1:p.Phe1280Ser, XP_047284966.1:p.Phe1058Ser, XP_047284965.1:p.Phe1239Ser

Select item 148490479210.

rs1484904792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:18282092 (GRCh38)
12:18435026 (GRCh37)
Canonical SPDI:: NC_000012.12:18282091:C:G,NC_000012.12:18282091:C:T
Gene:: PIK3C2G (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.18282092C>G, NC_000012.12:g.18282092C>T, NC_000012.11:g.18435026C>G, NC_000012.11:g.18435026C>T, NG_050635.1:g.44128C>G, NG_050635.1:g.44128C>T, NM_004570.6:c.11C>G, NM_004570.6:c.11C>T, NM_004570.5:c.11C>G, NM_004570.5:c.11C>T, NM_004570.4:c.11C>G, NM_004570.4:c.11C>T, NM_001288772.2:c.11C>G, NM_001288772.2:c.11C>T, NM_001288772.1:c.11C>G, NM_001288772.1:c.11C>T, NM_001288774.2:c.-649C>G, NM_001288774.2:c.-649C>T, NM_001288774.1:c.-649C>G, NM_001288774.1:c.-649C>T, XM_017019478.3:c.11C>G, XM_017019478.3:c.11C>T, XM_017019478.2:c.11C>G, XM_017019478.2:c.11C>T, XM_017019478.1:c.11C>G, XM_017019478.1:c.11C>T, XM_017019473.3:c.11C>G, XM_017019473.3:c.11C>T, XM_017019473.2:c.11C>G, XM_017019473.2:c.11C>T, XM_017019473.1:c.11C>G, XM_017019473.1:c.11C>T, XM_011520701.3:c.11C>G, XM_011520701.3:c.11C>T, XM_011520701.2:c.11C>G, XM_011520701.2:c.11C>T, XM_011520701.1:c.11C>G, XM_011520701.1:c.11C>T, XM_011520697.3:c.11C>G, XM_011520697.3:c.11C>T, XM_011520697.2:c.11C>G, XM_011520697.2:c.11C>T, XM_011520697.1:c.11C>G, XM_011520697.1:c.11C>T, XR_931307.3:n.349C>G, XR_931307.3:n.349C>T, XR_931307.2:n.246C>G, XR_931307.2:n.246C>T, XR_931307.1:n.190C>G, XR_931307.1:n.190C>T, XM_017019475.2:c.11C>G, XM_017019475.2:c.11C>T, XM_017019475.1:c.11C>G, XM_017019475.1:c.11C>T, XM_017019471.2:c.11C>G, XM_017019471.2:c.11C>T, XM_017019471.1:c.11C>G, XM_017019471.1:c.11C>T, XM_047429007.1:c.11C>G, XM_047429007.1:c.11C>T, XM_047429006.1:c.11C>G, XM_047429006.1:c.11C>T, XM_047429008.1:c.11C>G, XM_047429008.1:c.11C>T, XM_047429005.1:c.11C>G, XM_047429005.1:c.11C>T, XM_047429010.1:c.-649C>G, XM_047429010.1:c.-649C>T, XM_047429009.1:c.11C>G, XM_047429009.1:c.11C>T, NP_004561.3:p.Ser4Cys, NP_004561.3:p.Ser4Phe, NP_001275701.1:p.Ser4Cys, NP_001275701.1:p.Ser4Phe, XP_016874967.1:p.Ser4Cys, XP_016874967.1:p.Ser4Phe, XP_016874962.1:p.Ser4Cys, XP_016874962.1:p.Ser4Phe, XP_011519003.1:p.Ser4Cys, XP_011519003.1:p.Ser4Phe, XP_011518999.1:p.Ser4Cys, XP_011518999.1:p.Ser4Phe, XP_016874964.1:p.Ser4Cys, XP_016874964.1:p.Ser4Phe, XP_016874960.1:p.Ser4Cys, XP_016874960.1:p.Ser4Phe, XP_047284963.1:p.Ser4Cys, XP_047284963.1:p.Ser4Phe, XP_047284962.1:p.Ser4Cys, XP_047284962.1:p.Ser4Phe, XP_047284964.1:p.Ser4Cys, XP_047284964.1:p.Ser4Phe, XP_047284961.1:p.Ser4Cys, XP_047284961.1:p.Ser4Phe, XP_047284965.1:p.Ser4Cys, XP_047284965.1:p.Ser4Phe

Select item 148488478011.

rs1484884780 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:18282555 (GRCh38)
12:18435489 (GRCh37)
Canonical SPDI:: NC_000012.12:18282554:A:G
Gene:: PIK3C2G (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.18282555A>G, NC_000012.11:g.18435489A>G, NG_050635.1:g.44591A>G, NM_004570.6:c.474A>G, NM_004570.5:c.474A>G, NM_004570.4:c.474A>G, NM_001288772.2:c.474A>G, NM_001288772.1:c.474A>G, NM_001288774.2:c.-186A>G, NM_001288774.1:c.-186A>G, XM_017019478.3:c.474A>G, XM_017019478.2:c.474A>G, XM_017019478.1:c.474A>G, XM_017019473.3:c.474A>G, XM_017019473.2:c.474A>G, XM_017019473.1:c.474A>G, XM_011520701.3:c.474A>G, XM_011520701.2:c.474A>G, XM_011520701.1:c.474A>G, XM_011520697.3:c.474A>G, XM_011520697.2:c.474A>G, XM_011520697.1:c.474A>G, XR_931307.3:n.812A>G, XR_931307.2:n.709A>G, XR_931307.1:n.653A>G, XM_017019475.2:c.474A>G, XM_017019475.1:c.474A>G, XM_017019471.2:c.474A>G, XM_017019471.1:c.474A>G, XM_047429007.1:c.474A>G, XM_047429006.1:c.474A>G, XM_047429008.1:c.474A>G, XM_047429005.1:c.474A>G, XM_047429010.1:c.-186A>G, XM_047429009.1:c.474A>G

Select item 148453729912.

rs1484537299 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:18362786 (GRCh38)
12:18515720 (GRCh37)
Canonical SPDI:: NC_000012.12:18362785:T:G
Gene:: PIK3C2G (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
HGVS:: NC_000012.12:g.18362786T>G, NC_000012.11:g.18515720T>G, NG_050635.1:g.124822T>G, NM_001288772.2:c.1648T>G, NM_001288772.1:c.1648T>G, NM_001288774.2:c.982T>G, NM_001288774.1:c.982T>G, XM_017019478.3:c.1648T>G, XM_017019478.2:c.1648T>G, XM_017019478.1:c.1648T>G, XM_017019473.3:c.1648T>G, XM_017019473.2:c.1648T>G, XM_017019473.1:c.1648T>G, XM_011520701.3:c.1648T>G, XM_011520701.2:c.1648T>G, XM_011520701.1:c.1648T>G, XM_011520697.3:c.1648T>G, XM_011520697.2:c.1648T>G, XM_011520697.1:c.1648T>G, XR_931307.3:n.1986T>G, XR_931307.2:n.1883T>G, XR_931307.1:n.1827T>G, XM_017019475.2:c.1648T>G, XM_017019475.1:c.1648T>G, XM_017019471.2:c.1648T>G, XM_017019471.1:c.1648T>G, XM_047429007.1:c.1648T>G, XM_047429006.1:c.1648T>G, XM_047429005.1:c.1648T>G, XM_047429010.1:c.982T>G, NP_001275701.1:p.Cys550Gly, NP_001275703.1:p.Cys328Gly, XP_016874967.1:p.Cys550Gly, XP_016874962.1:p.Cys550Gly, XP_011519003.1:p.Cys550Gly, XP_011518999.1:p.Cys550Gly, XP_016874964.1:p.Cys550Gly, XP_016874960.1:p.Cys550Gly, XP_047284963.1:p.Cys550Gly, XP_047284962.1:p.Cys550Gly, XP_047284961.1:p.Cys550Gly, XP_047284966.1:p.Cys328Gly

Select item 148423246113.

rs1484232461 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:18325095 (GRCh38)
12:18478029 (GRCh37)
Canonical SPDI:: NC_000012.12:18325094:C:A
Gene:: PIK3C2G (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.18325095C>A, NC_000012.11:g.18478029C>A, NG_050635.1:g.87131C>A, NM_004570.6:c.1269C>A, NM_004570.5:c.1269C>A, NM_004570.4:c.1269C>A, NM_001288772.2:c.1269C>A, NM_001288772.1:c.1269C>A, NM_001288774.2:c.603C>A, NM_001288774.1:c.603C>A, XM_017019478.3:c.1269C>A, XM_017019478.2:c.1269C>A, XM_017019478.1:c.1269C>A, XM_017019473.3:c.1269C>A, XM_017019473.2:c.1269C>A, XM_017019473.1:c.1269C>A, XM_011520701.3:c.1269C>A, XM_011520701.2:c.1269C>A, XM_011520701.1:c.1269C>A, XM_011520697.3:c.1269C>A, XM_011520697.2:c.1269C>A, XM_011520697.1:c.1269C>A, XR_931307.3:n.1607C>A, XR_931307.2:n.1504C>A, XR_931307.1:n.1448C>A, XM_017019475.2:c.1269C>A, XM_017019475.1:c.1269C>A, XM_017019471.2:c.1269C>A, XM_017019471.1:c.1269C>A, XM_047429007.1:c.1269C>A, XM_047429006.1:c.1269C>A, XM_047429008.1:c.1269C>A, XM_047429005.1:c.1269C>A, XM_047429010.1:c.603C>A, XM_047429009.1:c.1269C>A

Select item 148243730314.

rs1482437303 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:18505396 (GRCh38)
12:18658330 (GRCh37)
Canonical SPDI:: NC_000012.12:18505395:C:T
Gene:: PIK3C2G (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.18505396C>T, NC_000012.11:g.18658330C>T, NG_050635.1:g.267432C>T, NM_004570.6:c.3135C>T, NM_004570.5:c.3135C>T, NM_004570.4:c.3135C>T, NM_001288772.2:c.3258C>T, NM_001288772.1:c.3258C>T, NM_001288774.2:c.2592C>T, NM_001288774.1:c.2592C>T, XM_017019473.3:c.3258C>T, XM_017019473.2:c.3258C>T, XM_017019473.1:c.3258C>T, XM_011520697.3:c.3258C>T, XM_011520697.2:c.3258C>T, XM_011520697.1:c.3258C>T, XM_017019475.2:c.3258C>T, XM_017019475.1:c.3258C>T, XM_017019471.2:c.3258C>T, XM_017019471.1:c.3258C>T, XM_017019479.2:c.1233C>T, XM_017019479.1:c.1233C>T, XM_047429007.1:c.3258C>T, XM_047429006.1:c.3258C>T, XM_047429008.1:c.3135C>T, XM_047429005.1:c.3258C>T, XM_047429010.1:c.2592C>T, XM_047429009.1:c.3135C>T

Select item 148182399215.

rs1481823992 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:18381844 (GRCh38)
12:18534778 (GRCh37)
Canonical SPDI:: NC_000012.12:18381843:G:A
Gene:: PIK3C2G (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.18381844G>A, NC_000012.11:g.18534778G>A, NG_050635.1:g.143880G>A, NM_004570.6:c.1836G>A, NM_004570.5:c.1836G>A, NM_004570.4:c.1836G>A, NM_001288772.2:c.1959G>A, NM_001288772.1:c.1959G>A, NM_001288774.2:c.1293G>A, NM_001288774.1:c.1293G>A, XM_017019478.3:c.1959G>A, XM_017019478.2:c.1959G>A, XM_017019478.1:c.1959G>A, XM_017019473.3:c.1959G>A, XM_017019473.2:c.1959G>A, XM_017019473.1:c.1959G>A, XM_011520701.3:c.1959G>A, XM_011520701.2:c.1959G>A, XM_011520701.1:c.1959G>A, XM_011520697.3:c.1959G>A, XM_011520697.2:c.1959G>A, XM_011520697.1:c.1959G>A, XR_931307.3:n.2297G>A, XR_931307.2:n.2194G>A, XR_931307.1:n.2138G>A, XM_017019475.2:c.1959G>A, XM_017019475.1:c.1959G>A, XM_017019471.2:c.1959G>A, XM_017019471.1:c.1959G>A, XM_047429007.1:c.1959G>A, XM_047429006.1:c.1959G>A, XM_047429008.1:c.1836G>A, XM_047429005.1:c.1959G>A, XM_047429010.1:c.1293G>A, XM_047429009.1:c.1836G>A

Select item 148109945316.

rs1481099453 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:18488506 (GRCh38)
12:18641440 (GRCh37)
Canonical SPDI:: NC_000012.12:18488505:A:G
Gene:: PIK3C2G (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.18488506A>G, NC_000012.11:g.18641440A>G, NG_050635.1:g.250542A>G, NM_004570.6:c.2439A>G, NM_004570.5:c.2439A>G, NM_004570.4:c.2439A>G, NM_001288772.2:c.2562A>G, NM_001288772.1:c.2562A>G, NM_001288774.2:c.1896A>G, NM_001288774.1:c.1896A>G, XM_017019473.3:c.2562A>G, XM_017019473.2:c.2562A>G, XM_017019473.1:c.2562A>G, XM_011520697.3:c.2562A>G, XM_011520697.2:c.2562A>G, XM_011520697.1:c.2562A>G, XM_017019475.2:c.2562A>G, XM_017019475.1:c.2562A>G, XM_017019471.2:c.2562A>G, XM_017019471.1:c.2562A>G, XM_017019479.2:c.537A>G, XM_017019479.1:c.537A>G, XM_047429007.1:c.2562A>G, XM_047429006.1:c.2562A>G, XM_047429008.1:c.2439A>G, XM_047429005.1:c.2562A>G, XM_047429010.1:c.1896A>G, XM_047429009.1:c.2439A>G

Select item 147950709617.

rs1479507096 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 12:18715779 (GRCh38)
12:18868713 (GRCh37)
Canonical SPDI:: NC_000012.12:18715778:G:
Gene:: PIK3C2G (Varview), PLCZ1 (Varview)
Functional Consequence:: upstream_transcript_variant,frameshift_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.18715779del, NC_000012.11:g.18868713del, NG_052826.1:g.27281del, XM_017019473.3:c.4402del, XM_017019473.2:c.4402del, XM_017019473.1:c.4402del, XM_017019471.2:c.4402del, XM_017019471.1:c.4402del, XM_017019479.2:c.2377del, XM_017019479.1:c.2377del, XM_047429007.1:c.4402del, XM_047429008.1:c.4279del, XP_016874962.1:p.Val1468fs, XP_016874960.1:p.Val1468fs, XP_016874968.1:p.Val793fs, XP_047284963.1:p.Val1468fs, XP_047284964.1:p.Val1427fs

Select item 147934200618.

rs1479342006 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:18538227 (GRCh38)
12:18691161 (GRCh37)
Canonical SPDI:: NC_000012.12:18538226:A:G
Gene:: PIK3C2G (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.18538227A>G, NC_000012.11:g.18691161A>G, NG_050635.1:g.300263A>G, NM_004570.6:c.3272A>G, NM_004570.5:c.3272A>G, NM_004570.4:c.3272A>G, NM_001288772.2:c.3395A>G, NM_001288772.1:c.3395A>G, NM_001288774.2:c.2729A>G, NM_001288774.1:c.2729A>G, XM_017019473.3:c.3395A>G, XM_017019473.2:c.3395A>G, XM_017019473.1:c.3395A>G, XM_011520697.3:c.3395A>G, XM_011520697.2:c.3395A>G, XM_011520697.1:c.3395A>G, XM_017019475.2:c.3395A>G, XM_017019475.1:c.3395A>G, XM_017019471.2:c.3395A>G, XM_017019471.1:c.3395A>G, XM_017019479.2:c.1370A>G, XM_017019479.1:c.1370A>G, XM_047429007.1:c.3395A>G, XM_047429006.1:c.3395A>G, XM_047429008.1:c.3272A>G, XM_047429005.1:c.3395A>G, XM_047429010.1:c.2729A>G, XM_047429009.1:c.3272A>G, NP_004561.3:p.His1091Arg, NP_001275701.1:p.His1132Arg, NP_001275703.1:p.His910Arg, XP_016874962.1:p.His1132Arg, XP_011518999.1:p.His1132Arg, XP_016874964.1:p.His1132Arg, XP_016874960.1:p.His1132Arg, XP_016874968.1:p.His457Arg, XP_047284963.1:p.His1132Arg, XP_047284962.1:p.His1132Arg, XP_047284964.1:p.His1091Arg, XP_047284961.1:p.His1132Arg, XP_047284966.1:p.His910Arg, XP_047284965.1:p.His1091Arg

Select item 147879638819.

rs1478796388 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 12:18282415 (GRCh38)
12:18435349 (GRCh37)
Canonical SPDI:: NC_000012.12:18282412:CTTCT:CT
Gene:: PIK3C2G (Varview)
Functional Consequence:: inframe_deletion,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.18282415_18282417del, NC_000012.11:g.18435349_18435351del, NG_050635.1:g.44451_44453del, NM_004570.6:c.334_336del, NM_004570.5:c.334_336del, NM_004570.4:c.334_336del, NM_001288772.2:c.334_336del, NM_001288772.1:c.334_336del, NM_001288774.2:c.-326_-324del, NM_001288774.1:c.-326_-324del, XM_017019478.3:c.334_336del, XM_017019478.2:c.334_336del, XM_017019478.1:c.334_336del, XM_017019473.3:c.334_336del, XM_017019473.2:c.334_336del, XM_017019473.1:c.334_336del, XM_011520701.3:c.334_336del, XM_011520701.2:c.334_336del, XM_011520701.1:c.334_336del, XM_011520697.3:c.334_336del, XM_011520697.2:c.334_336del, XM_011520697.1:c.334_336del, XR_931307.3:n.672_674del, XR_931307.2:n.569_571del, XR_931307.1:n.513_515del, XM_017019475.2:c.334_336del, XM_017019475.1:c.334_336del, XM_017019471.2:c.334_336del, XM_017019471.1:c.334_336del, XM_047429007.1:c.334_336del, XM_047429006.1:c.334_336del, XM_047429008.1:c.334_336del, XM_047429005.1:c.334_336del, XM_047429010.1:c.-326_-324del, XM_047429009.1:c.334_336del, NP_004561.3:p.Ser112del, NP_001275701.1:p.Ser112del, XP_016874967.1:p.Ser112del, XP_016874962.1:p.Ser112del, XP_011519003.1:p.Ser112del, XP_011518999.1:p.Ser112del, XP_016874964.1:p.Ser112del, XP_016874960.1:p.Ser112del, XP_047284963.1:p.Ser112del, XP_047284962.1:p.Ser112del, XP_047284964.1:p.Ser112del, XP_047284961.1:p.Ser112del, XP_047284965.1:p.Ser112del

Select item 147840358520.

rs1478403585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:18282183 (GRCh38)
12:18435117 (GRCh37)
Canonical SPDI:: NC_000012.12:18282182:C:A
Gene:: PIK3C2G (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.18282183C>A, NC_000012.11:g.18435117C>A, NG_050635.1:g.44219C>A, NM_004570.6:c.102C>A, NM_004570.5:c.102C>A, NM_004570.4:c.102C>A, NM_001288772.2:c.102C>A, NM_001288772.1:c.102C>A, NM_001288774.2:c.-558C>A, NM_001288774.1:c.-558C>A, XM_017019478.3:c.102C>A, XM_017019478.2:c.102C>A, XM_017019478.1:c.102C>A, XM_017019473.3:c.102C>A, XM_017019473.2:c.102C>A, XM_017019473.1:c.102C>A, XM_011520701.3:c.102C>A, XM_011520701.2:c.102C>A, XM_011520701.1:c.102C>A, XM_011520697.3:c.102C>A, XM_011520697.2:c.102C>A, XM_011520697.1:c.102C>A, XR_931307.3:n.440C>A, XR_931307.2:n.337C>A, XR_931307.1:n.281C>A, XM_017019475.2:c.102C>A, XM_017019475.1:c.102C>A, XM_017019471.2:c.102C>A, XM_017019471.1:c.102C>A, XM_047429007.1:c.102C>A, XM_047429006.1:c.102C>A, XM_047429008.1:c.102C>A, XM_047429005.1:c.102C>A, XM_047429010.1:c.-558C>A, XM_047429009.1:c.102C>A, NP_004561.3:p.Ser34Arg, NP_001275701.1:p.Ser34Arg, XP_016874967.1:p.Ser34Arg, XP_016874962.1:p.Ser34Arg, XP_011519003.1:p.Ser34Arg, XP_011518999.1:p.Ser34Arg, XP_016874964.1:p.Ser34Arg, XP_016874960.1:p.Ser34Arg, XP_047284963.1:p.Ser34Arg, XP_047284962.1:p.Ser34Arg, XP_047284964.1:p.Ser34Arg, XP_047284961.1:p.Ser34Arg, XP_047284965.1:p.Ser34Arg

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