SNP Links for Protein (Select 767988212) - SNP

Links from Protein

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Select item 14890399041.

rs1489039904 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:23700791 (GRCh38)
16:23712112 (GRCh37)
Canonical SPDI:: NC_000016.10:23700790:C:A
Gene:: ERN2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.23700791C>A, NC_000016.9:g.23712112C>A, XM_011545712.3:c.1404G>T, XM_011545712.2:c.1404G>T, XM_011545712.1:c.1404G>T, XR_950727.2:n.1439G>T, XR_950727.1:n.1465G>T, XM_011545713.2:c.1404G>T, XM_011545713.1:c.1404G>T

Select item 14888828372.

rs1488882837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 16:23702466 (GRCh38)
16:23713787 (GRCh37)
Canonical SPDI:: NC_000016.10:23702465:C:A,NC_000016.10:23702465:C:G
Gene:: ERN2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.23702466C>A, NC_000016.10:g.23702466C>G, NC_000016.9:g.23713787C>A, NC_000016.9:g.23713787C>G, NM_033266.4:c.1005G>T, NM_033266.4:c.1005G>C, NM_033266.3:c.1005G>T, NM_033266.3:c.1005G>C, XM_011545712.3:c.1005G>T, XM_011545712.3:c.1005G>C, XM_011545712.2:c.1005G>T, XM_011545712.2:c.1005G>C, XM_011545712.1:c.1005G>T, XM_011545712.1:c.1005G>C, XM_011545711.3:c.1005G>T, XM_011545711.3:c.1005G>C, XM_011545711.2:c.1005G>T, XM_011545711.2:c.1005G>C, XM_011545711.1:c.1005G>T, XM_011545711.1:c.1005G>C, NM_001308220.2:c.1005G>T, NM_001308220.2:c.1005G>C, NM_001308220.1:c.1005G>T, NM_001308220.1:c.1005G>C, XR_950727.2:n.1040G>T, XR_950727.2:n.1040G>C, XR_950727.1:n.1066G>T, XR_950727.1:n.1066G>C, XM_011545713.2:c.1005G>T, XM_011545713.2:c.1005G>C, XM_011545713.1:c.1005G>T, XM_011545713.1:c.1005G>C, XM_047433506.1:c.573G>T, XM_047433506.1:c.573G>C, NP_150296.4:p.Glu335Asp, NP_150296.4:p.Glu335Asp, XP_011544014.1:p.Glu335Asp, XP_011544014.1:p.Glu335Asp, XP_011544013.1:p.Glu335Asp, XP_011544013.1:p.Glu335Asp, NP_001295149.2:p.Glu335Asp, NP_001295149.2:p.Glu335Asp, XP_011544015.1:p.Glu335Asp, XP_011544015.1:p.Glu335Asp, XP_047289462.1:p.Glu191Asp, XP_047289462.1:p.Glu191Asp

Select item 14888312573.

rs1488831257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:23700738 (GRCh38)
16:23712059 (GRCh37)
Canonical SPDI:: NC_000016.10:23700737:G:A
Gene:: ERN2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.0001/1 (ALFA)
HGVS:: NC_000016.10:g.23700738G>A, NC_000016.9:g.23712059G>A, XM_011545712.3:c.1457C>T, XM_011545712.2:c.1457C>T, XM_011545712.1:c.1457C>T, XR_950727.2:n.1492C>T, XR_950727.1:n.1518C>T, XM_011545713.2:c.1457C>T, XM_011545713.1:c.1457C>T, XP_011544014.1:p.Pro486Leu, XP_011544015.1:p.Pro486Leu

Select item 14869195524.

rs1486919552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:23705124 (GRCh38)
16:23716445 (GRCh37)
Canonical SPDI:: NC_000016.10:23705123:C:T
Gene:: ERN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000016/4 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.23705124C>T, NC_000016.9:g.23716445C>T, NM_033266.4:c.613G>A, NM_033266.3:c.613G>A, XM_011545712.3:c.613G>A, XM_011545712.2:c.613G>A, XM_011545712.1:c.613G>A, XM_011545711.3:c.613G>A, XM_011545711.2:c.613G>A, XM_011545711.1:c.613G>A, NM_001308220.2:c.613G>A, NM_001308220.1:c.613G>A, XR_950727.2:n.648G>A, XR_950727.1:n.674G>A, XM_011545713.2:c.613G>A, XM_011545713.1:c.613G>A, XM_047433506.1:c.181G>A, NP_150296.4:p.Gly205Arg, XP_011544014.1:p.Gly205Arg, XP_011544013.1:p.Gly205Arg, NP_001295149.2:p.Gly205Arg, XP_011544015.1:p.Gly205Arg, XP_047289462.1:p.Gly61Arg

Select item 14868190475.

rs1486819047 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:23706795 (GRCh38)
16:23718116 (GRCh37)
Canonical SPDI:: NC_000016.10:23706794:G:A
Gene:: ERN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.23706795G>A, NC_000016.9:g.23718116G>A, NM_033266.4:c.446C>T, NM_033266.3:c.446C>T, XM_011545712.3:c.446C>T, XM_011545712.2:c.446C>T, XM_011545712.1:c.446C>T, XM_011545711.3:c.446C>T, XM_011545711.2:c.446C>T, XM_011545711.1:c.446C>T, NM_001308220.2:c.446C>T, NM_001308220.1:c.446C>T, XR_950727.2:n.481C>T, XR_950727.1:n.507C>T, XM_011545713.2:c.446C>T, XM_011545713.1:c.446C>T, XM_047433506.1:c.14C>T, NP_150296.4:p.Thr149Ile, XP_011544014.1:p.Thr149Ile, XP_011544013.1:p.Thr149Ile, NP_001295149.2:p.Thr149Ile, XP_011544015.1:p.Thr149Ile, XP_047289462.1:p.Thr5Ile

Select item 14824062926.

rs1482406292 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:23700966 (GRCh38)
16:23712287 (GRCh37)
Canonical SPDI:: NC_000016.10:23700965:A:G
Gene:: ERN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.23700966A>G, NC_000016.9:g.23712287A>G, NM_033266.4:c.1352T>C, NM_033266.3:c.1352T>C, XM_011545712.3:c.1352T>C, XM_011545712.2:c.1352T>C, XM_011545712.1:c.1352T>C, XM_011545711.3:c.1352T>C, XM_011545711.2:c.1352T>C, XM_011545711.1:c.1352T>C, XR_950727.2:n.1387T>C, XR_950727.1:n.1413T>C, XM_011545713.2:c.1352T>C, XM_011545713.1:c.1352T>C, XM_047433506.1:c.920T>C, NP_150296.4:p.Met451Thr, XP_011544014.1:p.Met451Thr, XP_011544013.1:p.Met451Thr, XP_011544015.1:p.Met451Thr, XP_047289462.1:p.Met307Thr

Select item 14814442577.

rs1481444257 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:23710938 (GRCh38)
16:23722259 (GRCh37)
Canonical SPDI:: NC_000016.10:23710937:C:T
Gene:: ERN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.23710938C>T, NC_000016.9:g.23722259C>T, NM_033266.4:c.174G>A, NM_033266.3:c.174G>A, XM_011545712.3:c.174G>A, XM_011545712.2:c.174G>A, XM_011545712.1:c.174G>A, XM_011545711.3:c.174G>A, XM_011545711.2:c.174G>A, XM_011545711.1:c.174G>A, NM_001308220.2:c.174G>A, NM_001308220.1:c.174G>A, XR_950727.2:n.209G>A, XR_950727.1:n.235G>A, XM_011545713.2:c.174G>A, XM_011545713.1:c.174G>A

Select item 14810807048.

rs1481080704 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:23700705 (GRCh38)
16:23712026 (GRCh37)
Canonical SPDI:: NC_000016.10:23700704:CT:
Gene:: ERN2 (Varview)
Functional Consequence:: splice_acceptor_variant,coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.23700705_23700706del, NC_000016.9:g.23712026_23712027del, XM_011545712.3:c.1489_1490del, XM_011545712.2:c.1489_1490del, XM_011545712.1:c.1489_1490del, XR_950727.2:n.1524_1525del, XR_950727.1:n.1550_1551del, XM_011545713.2:c.1489_1490del, XM_011545713.1:c.1489_1490del, XP_011544014.1:p.Ser497fs, XP_011544015.1:p.Ser497fs

Select item 14803760159.

rs1480376015 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:23710916 (GRCh38)
16:23722237 (GRCh37)
Canonical SPDI:: NC_000016.10:23710915:C:A
Gene:: ERN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.23710916C>A, NC_000016.9:g.23722237C>A, NM_033266.4:c.196G>T, NM_033266.3:c.196G>T, XM_011545712.3:c.196G>T, XM_011545712.2:c.196G>T, XM_011545712.1:c.196G>T, XM_011545711.3:c.196G>T, XM_011545711.2:c.196G>T, XM_011545711.1:c.196G>T, NM_001308220.2:c.196G>T, NM_001308220.1:c.196G>T, XR_950727.2:n.231G>T, XR_950727.1:n.257G>T, XM_011545713.2:c.196G>T, XM_011545713.1:c.196G>T, NP_150296.4:p.Asp66Tyr, XP_011544014.1:p.Asp66Tyr, XP_011544013.1:p.Asp66Tyr, NP_001295149.2:p.Asp66Tyr, XP_011544015.1:p.Asp66Tyr

Select item 147882198010.

rs1478821980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:23700628 (GRCh38)
16:23711949 (GRCh37)
Canonical SPDI:: NC_000016.10:23700627:G:A,NC_000016.10:23700627:G:C
Gene:: ERN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.23700628G>A, NC_000016.10:g.23700628G>C, NC_000016.9:g.23711949G>A, NC_000016.9:g.23711949G>C, NM_033266.4:c.1436C>T, NM_033266.4:c.1436C>G, NM_033266.3:c.1436C>T, NM_033266.3:c.1436C>G, XM_011545712.3:c.1567C>T, XM_011545712.3:c.1567C>G, XM_011545712.2:c.1567C>T, XM_011545712.2:c.1567C>G, XM_011545712.1:c.1567C>T, XM_011545712.1:c.1567C>G, XM_011545711.3:c.1436C>T, XM_011545711.3:c.1436C>G, XM_011545711.2:c.1436C>T, XM_011545711.2:c.1436C>G, XM_011545711.1:c.1436C>T, XM_011545711.1:c.1436C>G, NM_001308220.2:c.1280C>T, NM_001308220.2:c.1280C>G, NM_001308220.1:c.1280C>T, NM_001308220.1:c.1280C>G, XR_950727.2:n.1602C>T, XR_950727.2:n.1602C>G, XR_950727.1:n.1628C>T, XR_950727.1:n.1628C>G, XM_011545713.2:c.1567C>T, XM_011545713.2:c.1567C>G, XM_011545713.1:c.1567C>T, XM_011545713.1:c.1567C>G, XM_047433506.1:c.1004C>T, XM_047433506.1:c.1004C>G, NP_150296.4:p.Ala479Val, NP_150296.4:p.Ala479Gly, XP_011544014.1:p.Pro523Ser, XP_011544014.1:p.Pro523Ala, XP_011544013.1:p.Ala479Val, XP_011544013.1:p.Ala479Gly, NP_001295149.2:p.Ala427Val, NP_001295149.2:p.Ala427Gly, XP_011544015.1:p.Pro523Ser, XP_011544015.1:p.Pro523Ala, XP_047289462.1:p.Ala335Val, XP_047289462.1:p.Ala335Gly

Select item 147259564111.

rs1472595641 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:23702182 (GRCh38)
16:23713503 (GRCh37)
Canonical SPDI:: NC_000016.10:23702181:C:T
Gene:: ERN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.23702182C>T, NC_000016.9:g.23713503C>T, NM_033266.4:c.1173G>A, NM_033266.3:c.1173G>A, XM_011545712.3:c.1173G>A, XM_011545712.2:c.1173G>A, XM_011545712.1:c.1173G>A, XM_011545711.3:c.1173G>A, XM_011545711.2:c.1173G>A, XM_011545711.1:c.1173G>A, NM_001308220.2:c.1173G>A, NM_001308220.1:c.1173G>A, XR_950727.2:n.1208G>A, XR_950727.1:n.1234G>A, XM_011545713.2:c.1173G>A, XM_011545713.1:c.1173G>A, XM_047433506.1:c.741G>A

Select item 147063284212.

rs1470632842 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:23704885 (GRCh38)
16:23716206 (GRCh37)
Canonical SPDI:: NC_000016.10:23704884:C:A
Gene:: ERN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.23704885C>A, NC_000016.9:g.23716206C>A, NM_033266.4:c.852G>T, NM_033266.3:c.852G>T, XM_011545712.3:c.852G>T, XM_011545712.2:c.852G>T, XM_011545712.1:c.852G>T, XM_011545711.3:c.852G>T, XM_011545711.2:c.852G>T, XM_011545711.1:c.852G>T, NM_001308220.2:c.852G>T, NM_001308220.1:c.852G>T, XR_950727.2:n.887G>T, XR_950727.1:n.913G>T, XM_011545713.2:c.852G>T, XM_011545713.1:c.852G>T, XM_047433506.1:c.420G>T

Select item 147052149613.

rs1470521496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:23706790 (GRCh38)
16:23718111 (GRCh37)
Canonical SPDI:: NC_000016.10:23706789:C:A
Gene:: ERN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.23706790C>A, NC_000016.9:g.23718111C>A, NM_033266.4:c.451G>T, NM_033266.3:c.451G>T, XM_011545712.3:c.451G>T, XM_011545712.2:c.451G>T, XM_011545712.1:c.451G>T, XM_011545711.3:c.451G>T, XM_011545711.2:c.451G>T, XM_011545711.1:c.451G>T, NM_001308220.2:c.451G>T, NM_001308220.1:c.451G>T, XR_950727.2:n.486G>T, XR_950727.1:n.512G>T, XM_011545713.2:c.451G>T, XM_011545713.1:c.451G>T, XM_047433506.1:c.19G>T, NP_150296.4:p.Gly151Cys, XP_011544014.1:p.Gly151Cys, XP_011544013.1:p.Gly151Cys, NP_001295149.2:p.Gly151Cys, XP_011544015.1:p.Gly151Cys, XP_047289462.1:p.Gly7Cys

Select item 146777512014.

rs1467775120 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 16:23713172 (GRCh38)
16:23724493 (GRCh37)
Canonical SPDI:: NC_000016.10:23713171:T:
Gene:: ERN2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000417/5 (GoESP)
HGVS:: NC_000016.10:g.23713172del, NC_000016.9:g.23724493del, NM_033266.4:c.16del, NM_033266.3:c.16del, XM_011545712.3:c.16del, XM_011545712.2:c.16del, XM_011545712.1:c.16del, XM_011545711.3:c.16del, XM_011545711.2:c.16del, XM_011545711.1:c.16del, NM_001308220.2:c.16del, NM_001308220.1:c.16del, XR_950727.2:n.51del, XR_950727.1:n.77del, XM_011545713.2:c.16del, XM_011545713.1:c.16del, NP_150296.4:p.Arg6fs, XP_011544014.1:p.Arg6fs, XP_011544013.1:p.Arg6fs, NP_001295149.2:p.Arg6fs, XP_011544015.1:p.Arg6fs

Select item 146647744415.

rs1466477444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:23700813 (GRCh38)
16:23712134 (GRCh37)
Canonical SPDI:: NC_000016.10:23700812:C:G
Gene:: ERN2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.23700813C>G, NC_000016.9:g.23712134C>G, XM_011545712.3:c.1382G>C, XM_011545712.2:c.1382G>C, XM_011545712.1:c.1382G>C, XR_950727.2:n.1417G>C, XR_950727.1:n.1443G>C, XM_011545713.2:c.1382G>C, XM_011545713.1:c.1382G>C, XP_011544014.1:p.Cys461Ser, XP_011544015.1:p.Cys461Ser

Select item 146475242116.

rs1464752421 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:23713107 (GRCh38)
16:23724428 (GRCh37)
Canonical SPDI:: NC_000016.10:23713106:C:A
Gene:: ERN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000016.10:g.23713107C>A, NC_000016.9:g.23724428C>A, NM_033266.4:c.81G>T, NM_033266.3:c.81G>T, XM_011545712.3:c.81G>T, XM_011545712.2:c.81G>T, XM_011545712.1:c.81G>T, XM_011545711.3:c.81G>T, XM_011545711.2:c.81G>T, XM_011545711.1:c.81G>T, NM_001308220.2:c.81G>T, NM_001308220.1:c.81G>T, XR_950727.2:n.116G>T, XR_950727.1:n.142G>T, XM_011545713.2:c.81G>T, XM_011545713.1:c.81G>T

Select item 146199883217.

rs1461998832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:23702420 (GRCh38)
16:23713741 (GRCh37)
Canonical SPDI:: NC_000016.10:23702419:C:T
Gene:: ERN2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.23702420C>T, NC_000016.9:g.23713741C>T, NM_033266.4:c.1051G>A, NM_033266.3:c.1051G>A, XM_011545712.3:c.1051G>A, XM_011545712.2:c.1051G>A, XM_011545712.1:c.1051G>A, XM_011545711.3:c.1051G>A, XM_011545711.2:c.1051G>A, XM_011545711.1:c.1051G>A, NM_001308220.2:c.1051G>A, NM_001308220.1:c.1051G>A, XR_950727.2:n.1086G>A, XR_950727.1:n.1112G>A, XM_011545713.2:c.1051G>A, XM_011545713.1:c.1051G>A, XM_047433506.1:c.619G>A, NP_150296.4:p.Val351Met, XP_011544014.1:p.Val351Met, XP_011544013.1:p.Val351Met, NP_001295149.2:p.Val351Met, XP_011544015.1:p.Val351Met, XP_047289462.1:p.Val207Met

Select item 146182510318.

rs1461825103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:23706341 (GRCh38)
16:23717662 (GRCh37)
Canonical SPDI:: NC_000016.10:23706340:G:A
Gene:: ERN2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.0004/1 (ALFA)
HGVS:: NC_000016.10:g.23706341G>A, NC_000016.9:g.23717662G>A, NM_033266.4:c.578C>T, NM_033266.3:c.578C>T, XM_011545712.3:c.578C>T, XM_011545712.2:c.578C>T, XM_011545712.1:c.578C>T, XM_011545711.3:c.578C>T, XM_011545711.2:c.578C>T, XM_011545711.1:c.578C>T, NM_001308220.2:c.578C>T, NM_001308220.1:c.578C>T, XR_950727.2:n.613C>T, XR_950727.1:n.639C>T, XM_011545713.2:c.578C>T, XM_011545713.1:c.578C>T, XM_047433506.1:c.146C>T, NP_150296.4:p.Ser193Leu, XP_011544014.1:p.Ser193Leu, XP_011544013.1:p.Ser193Leu, NP_001295149.2:p.Ser193Leu, XP_011544015.1:p.Ser193Leu, XP_047289462.1:p.Ser49Leu

Select item 146084925419.

rs1460849254 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:23706802 (GRCh38)
16:23718123 (GRCh37)
Canonical SPDI:: NC_000016.10:23706801:G:A
Gene:: ERN2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.23706802G>A, NC_000016.9:g.23718123G>A, NM_033266.4:c.439C>T, NM_033266.3:c.439C>T, XM_011545712.3:c.439C>T, XM_011545712.2:c.439C>T, XM_011545712.1:c.439C>T, XM_011545711.3:c.439C>T, XM_011545711.2:c.439C>T, XM_011545711.1:c.439C>T, NM_001308220.2:c.439C>T, NM_001308220.1:c.439C>T, XR_950727.2:n.474C>T, XR_950727.1:n.500C>T, XM_011545713.2:c.439C>T, XM_011545713.1:c.439C>T, XM_047433506.1:c.7C>T

Select item 145999711920.

rs1459997119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:23706386 (GRCh38)
16:23717707 (GRCh37)
Canonical SPDI:: NC_000016.10:23706385:C:T
Gene:: ERN2 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.23706386C>T, NC_000016.9:g.23717707C>T, NM_033266.4:c.533G>A, NM_033266.3:c.533G>A, XM_011545712.3:c.533G>A, XM_011545712.2:c.533G>A, XM_011545712.1:c.533G>A, XM_011545711.3:c.533G>A, XM_011545711.2:c.533G>A, XM_011545711.1:c.533G>A, NM_001308220.2:c.533G>A, NM_001308220.1:c.533G>A, XR_950727.2:n.568G>A, XR_950727.1:n.594G>A, XM_011545713.2:c.533G>A, XM_011545713.1:c.533G>A, XM_047433506.1:c.101G>A, NP_150296.4:p.Trp178Ter, XP_011544014.1:p.Trp178Ter, XP_011544013.1:p.Trp178Ter, NP_001295149.2:p.Trp178Ter, XP_011544015.1:p.Trp178Ter, XP_047289462.1:p.Trp34Ter

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