SNP Links for Protein (Select 767973940) - SNP

Links from Protein

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Select item 14894789871.

rs1489478987 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:117476589 (GRCh38)
12:117914394 (GRCh37)
Canonical SPDI:: NC_000012.12:117476588:C:T
Gene:: KSR2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.117476589C>T, NC_000012.11:g.117914394C>T, NM_173598.6:c.2457G>A, NM_173598.5:c.2457G>A, NM_173598.4:c.2370G>A, XM_011538224.4:c.2451G>A, XM_011538224.3:c.2451G>A, XM_011538224.2:c.2451G>A, XM_011538224.1:c.2451G>A, XM_011538225.4:c.2094G>A, XM_011538225.3:c.2094G>A, XM_011538225.2:c.2094G>A, XM_011538225.1:c.2094G>A, XM_017019210.3:c.1152G>A, XM_017019210.2:c.1152G>A, XM_017019210.1:c.1152G>A, XM_017019208.3:c.2457G>A, XM_017019208.2:c.2457G>A, XM_017019208.1:c.2457G>A

Select item 14891666322.

rs1489166632 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:117855480 (GRCh38)
12:118293285 (GRCh37)
Canonical SPDI:: NC_000012.12:117855479:C:T
Gene:: KSR2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.117855480C>T, NC_000012.11:g.118293285C>T, NM_173598.6:c.420G>A, NM_173598.5:c.420G>A, NM_173598.4:c.333G>A, XM_011538224.4:c.420G>A, XM_011538224.3:c.420G>A, XM_011538224.2:c.420G>A, XM_011538224.1:c.420G>A, XM_011538225.4:c.57G>A, XM_011538225.3:c.57G>A, XM_011538225.2:c.57G>A, XM_011538225.1:c.57G>A, XM_011538226.4:c.420G>A, XM_011538226.3:c.420G>A, XM_011538226.2:c.420G>A, XM_011538226.1:c.420G>A, XM_011538229.4:c.420G>A, XM_011538229.3:c.420G>A, XM_011538229.2:c.420G>A, XM_011538229.1:c.420G>A, XM_017019208.3:c.420G>A, XM_017019208.2:c.420G>A, XM_017019208.1:c.420G>A, XM_017019209.3:c.420G>A, XM_017019209.2:c.420G>A, XM_017019209.1:c.420G>A

Select item 14890543273.

rs1489054327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:117485619 (GRCh38)
12:117923424 (GRCh37)
Canonical SPDI:: NC_000012.12:117485618:C:T
Gene:: KSR2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000012.12:g.117485619C>T, NC_000012.11:g.117923424C>T, NM_173598.6:c.2292G>A, NM_173598.5:c.2292G>A, NM_173598.4:c.2205G>A, XM_011538224.4:c.2286G>A, XM_011538224.3:c.2286G>A, XM_011538224.2:c.2286G>A, XM_011538224.1:c.2286G>A, XM_011538225.4:c.1929G>A, XM_011538225.3:c.1929G>A, XM_011538225.2:c.1929G>A, XM_011538225.1:c.1929G>A, XM_017019210.3:c.987G>A, XM_017019210.2:c.987G>A, XM_017019210.1:c.987G>A, XM_017019208.3:c.2292G>A, XM_017019208.2:c.2292G>A, XM_017019208.1:c.2292G>A

Select item 14887302814.

rs1488730281 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:117476579 (GRCh38)
12:117914384 (GRCh37)
Canonical SPDI:: NC_000012.12:117476578:G:A
Gene:: KSR2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.117476579G>A, NC_000012.11:g.117914384G>A, NM_173598.6:c.2467C>T, NM_173598.5:c.2467C>T, NM_173598.4:c.2380C>T, XM_011538224.4:c.2461C>T, XM_011538224.3:c.2461C>T, XM_011538224.2:c.2461C>T, XM_011538224.1:c.2461C>T, XM_011538225.4:c.2104C>T, XM_011538225.3:c.2104C>T, XM_011538225.2:c.2104C>T, XM_011538225.1:c.2104C>T, XM_017019210.3:c.1162C>T, XM_017019210.2:c.1162C>T, XM_017019210.1:c.1162C>T, XM_017019208.3:c.2467C>T, XM_017019208.2:c.2467C>T, XM_017019208.1:c.2467C>T, NP_775869.4:p.Arg823Cys, XP_011536526.1:p.Arg821Cys, XP_011536527.1:p.Arg702Cys, XP_016874699.1:p.Arg388Cys, XP_016874697.1:p.Arg823Cys

Select item 14861359315.

rs1486135931 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:117539725 (GRCh38)
12:117977530 (GRCh37)
Canonical SPDI:: NC_000012.12:117539724:G:A,NC_000012.12:117539724:G:T
Gene:: KSR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.117539725G>A, NC_000012.12:g.117539725G>T, NC_000012.11:g.117977530G>A, NC_000012.11:g.117977530G>T, NM_173598.6:c.1681C>T, NM_173598.6:c.1681C>A, NM_173598.5:c.1681C>T, NM_173598.5:c.1681C>A, NM_173598.4:c.1594C>T, NM_173598.4:c.1594C>A, XM_011538224.4:c.1675C>T, XM_011538224.4:c.1675C>A, XM_011538224.3:c.1675C>T, XM_011538224.3:c.1675C>A, XM_011538224.2:c.1675C>T, XM_011538224.2:c.1675C>A, XM_011538224.1:c.1675C>T, XM_011538224.1:c.1675C>A, XM_011538225.4:c.1318C>T, XM_011538225.4:c.1318C>A, XM_011538225.3:c.1318C>T, XM_011538225.3:c.1318C>A, XM_011538225.2:c.1318C>T, XM_011538225.2:c.1318C>A, XM_011538225.1:c.1318C>T, XM_011538225.1:c.1318C>A, XM_011538226.4:c.1681C>T, XM_011538226.4:c.1681C>A, XM_011538226.3:c.1681C>T, XM_011538226.3:c.1681C>A, XM_011538226.2:c.1681C>T, XM_011538226.2:c.1681C>A, XM_011538226.1:c.1681C>T, XM_011538226.1:c.1681C>A, XM_011538229.4:c.1681C>T, XM_011538229.4:c.1681C>A, XM_011538229.3:c.1681C>T, XM_011538229.3:c.1681C>A, XM_011538229.2:c.1681C>T, XM_011538229.2:c.1681C>A, XM_011538229.1:c.1681C>T, XM_011538229.1:c.1681C>A, XM_017019210.3:c.376C>T, XM_017019210.3:c.376C>A, XM_017019210.2:c.376C>T, XM_017019210.2:c.376C>A, XM_017019210.1:c.376C>T, XM_017019210.1:c.376C>A, XM_017019208.3:c.1681C>T, XM_017019208.3:c.1681C>A, XM_017019208.2:c.1681C>T, XM_017019208.2:c.1681C>A, XM_017019208.1:c.1681C>T, XM_017019208.1:c.1681C>A, XM_017019209.3:c.1681C>T, XM_017019209.3:c.1681C>A, XM_017019209.2:c.1681C>T, XM_017019209.2:c.1681C>A, XM_017019209.1:c.1681C>T, XM_017019209.1:c.1681C>A, NP_775869.4:p.Leu561Met, XP_011536526.1:p.Leu559Met, XP_011536527.1:p.Leu440Met, XP_011536528.1:p.Leu561Met, XP_011536531.1:p.Leu561Met, XP_016874699.1:p.Leu126Met, XP_016874697.1:p.Leu561Met, XP_016874698.1:p.Leu561Met

Select item 14860356276.

rs1486035627 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:117555184 (GRCh38)
12:117992989 (GRCh37)
Canonical SPDI:: NC_000012.12:117555183:G:A
Gene:: KSR2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.117555184G>A, NC_000012.11:g.117992989G>A, NM_173598.6:c.1503C>T, NM_173598.5:c.1503C>T, NM_173598.4:c.1416C>T, XM_011538224.4:c.1497C>T, XM_011538224.3:c.1497C>T, XM_011538224.2:c.1497C>T, XM_011538224.1:c.1497C>T, XM_011538225.4:c.1140C>T, XM_011538225.3:c.1140C>T, XM_011538225.2:c.1140C>T, XM_011538225.1:c.1140C>T, XM_011538226.4:c.1503C>T, XM_011538226.3:c.1503C>T, XM_011538226.2:c.1503C>T, XM_011538226.1:c.1503C>T, XM_011538229.4:c.1503C>T, XM_011538229.3:c.1503C>T, XM_011538229.2:c.1503C>T, XM_011538229.1:c.1503C>T, XM_017019210.3:c.198C>T, XM_017019210.2:c.198C>T, XM_017019210.1:c.198C>T, XM_017019208.3:c.1503C>T, XM_017019208.2:c.1503C>T, XM_017019208.1:c.1503C>T, XM_017019209.3:c.1503C>T, XM_017019209.2:c.1503C>T, XM_017019209.1:c.1503C>T

Select item 14850956797.

rs1485095679 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:117667501 (GRCh38)
12:118105306 (GRCh37)
Canonical SPDI:: NC_000012.12:117667500:C:A,NC_000012.12:117667500:C:T
Gene:: KSR2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.117667501C>A, NC_000012.12:g.117667501C>T, NC_000012.11:g.118105306C>A, NC_000012.11:g.118105306C>T, NM_173598.6:c.1144G>T, NM_173598.6:c.1144G>A, NM_173598.5:c.1144G>T, NM_173598.5:c.1144G>A, NM_173598.4:c.1057G>T, NM_173598.4:c.1057G>A, XM_011538224.4:c.1144G>T, XM_011538224.4:c.1144G>A, XM_011538224.3:c.1144G>T, XM_011538224.3:c.1144G>A, XM_011538224.2:c.1144G>T, XM_011538224.2:c.1144G>A, XM_011538224.1:c.1144G>T, XM_011538224.1:c.1144G>A, XM_011538225.4:c.781G>T, XM_011538225.4:c.781G>A, XM_011538225.3:c.781G>T, XM_011538225.3:c.781G>A, XM_011538225.2:c.781G>T, XM_011538225.2:c.781G>A, XM_011538225.1:c.781G>T, XM_011538225.1:c.781G>A, XM_011538226.4:c.1144G>T, XM_011538226.4:c.1144G>A, XM_011538226.3:c.1144G>T, XM_011538226.3:c.1144G>A, XM_011538226.2:c.1144G>T, XM_011538226.2:c.1144G>A, XM_011538226.1:c.1144G>T, XM_011538226.1:c.1144G>A, XM_011538229.4:c.1144G>T, XM_011538229.4:c.1144G>A, XM_011538229.3:c.1144G>T, XM_011538229.3:c.1144G>A, XM_011538229.2:c.1144G>T, XM_011538229.2:c.1144G>A, XM_011538229.1:c.1144G>T, XM_011538229.1:c.1144G>A, XM_017019208.3:c.1144G>T, XM_017019208.3:c.1144G>A, XM_017019208.2:c.1144G>T, XM_017019208.2:c.1144G>A, XM_017019208.1:c.1144G>T, XM_017019208.1:c.1144G>A, XM_017019209.3:c.1144G>T, XM_017019209.3:c.1144G>A, XM_017019209.2:c.1144G>T, XM_017019209.2:c.1144G>A, XM_017019209.1:c.1144G>T, XM_017019209.1:c.1144G>A, NP_775869.4:p.Val382Phe, NP_775869.4:p.Val382Ile, XP_011536526.1:p.Val382Phe, XP_011536526.1:p.Val382Ile, XP_011536527.1:p.Val261Phe, XP_011536527.1:p.Val261Ile, XP_011536528.1:p.Val382Phe, XP_011536528.1:p.Val382Ile, XP_011536531.1:p.Val382Phe, XP_011536531.1:p.Val382Ile, XP_016874697.1:p.Val382Phe, XP_016874697.1:p.Val382Ile, XP_016874698.1:p.Val382Phe, XP_016874698.1:p.Val382Ile

Select item 14844407628.

rs1484440762 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:117761150 (GRCh38)
12:118198955 (GRCh37)
Canonical SPDI:: NC_000012.12:117761149:T:G
Gene:: KSR2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.117761150T>G, NC_000012.11:g.118198955T>G, NM_173598.6:c.847A>C, NM_173598.5:c.847A>C, NM_173598.4:c.760A>C, XM_011538224.4:c.847A>C, XM_011538224.3:c.847A>C, XM_011538224.2:c.847A>C, XM_011538224.1:c.847A>C, XM_011538225.4:c.484A>C, XM_011538225.3:c.484A>C, XM_011538225.2:c.484A>C, XM_011538225.1:c.484A>C, XM_011538226.4:c.847A>C, XM_011538226.3:c.847A>C, XM_011538226.2:c.847A>C, XM_011538226.1:c.847A>C, XM_011538229.4:c.847A>C, XM_011538229.3:c.847A>C, XM_011538229.2:c.847A>C, XM_011538229.1:c.847A>C, XM_017019208.3:c.847A>C, XM_017019208.2:c.847A>C, XM_017019208.1:c.847A>C, XM_017019209.3:c.847A>C, XM_017019209.2:c.847A>C, XM_017019209.1:c.847A>C, NP_775869.4:p.Asn283His, XP_011536526.1:p.Asn283His, XP_011536527.1:p.Asn162His, XP_011536528.1:p.Asn283His, XP_011536531.1:p.Asn283His, XP_016874697.1:p.Asn283His, XP_016874698.1:p.Asn283His

Select item 14839478539.

rs1483947853 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:117525097 (GRCh38)
12:117962902 (GRCh37)
Canonical SPDI:: NC_000012.12:117525096:C:T
Gene:: KSR2 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.117525097C>T, NC_000012.11:g.117962902C>T, NM_173598.6:c.1974G>A, NM_173598.5:c.1974G>A, NM_173598.4:c.1887G>A, XM_011538224.4:c.1968G>A, XM_011538224.3:c.1968G>A, XM_011538224.2:c.1968G>A, XM_011538224.1:c.1968G>A, XM_011538225.4:c.1611G>A, XM_011538225.3:c.1611G>A, XM_011538225.2:c.1611G>A, XM_011538225.1:c.1611G>A, XM_011538226.4:c.1974G>A, XM_011538226.3:c.1974G>A, XM_011538226.2:c.1974G>A, XM_011538226.1:c.1974G>A, XM_017019210.3:c.669G>A, XM_017019210.2:c.669G>A, XM_017019210.1:c.669G>A, XM_017019208.3:c.1974G>A, XM_017019208.2:c.1974G>A, XM_017019208.1:c.1974G>A

Select item 148245424310.

rs1482454243 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:117524895 (GRCh38)
12:117962700 (GRCh37)
Canonical SPDI:: NC_000012.12:117524894:T:C
Gene:: KSR2 (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.117524895T>C, NC_000012.11:g.117962700T>C, NM_173598.6:c.2176A>G, NM_173598.5:c.2176A>G, NM_173598.4:c.2089A>G, XM_011538224.4:c.2170A>G, XM_011538224.3:c.2170A>G, XM_011538224.2:c.2170A>G, XM_011538224.1:c.2170A>G, XM_011538225.4:c.1813A>G, XM_011538225.3:c.1813A>G, XM_011538225.2:c.1813A>G, XM_011538225.1:c.1813A>G, XM_011538226.4:c.2176A>G, XM_011538226.3:c.2176A>G, XM_011538226.2:c.2176A>G, XM_011538226.1:c.2176A>G, XM_017019210.3:c.871A>G, XM_017019210.2:c.871A>G, XM_017019210.1:c.871A>G, XM_017019208.3:c.2176A>G, XM_017019208.2:c.2176A>G, XM_017019208.1:c.2176A>G, NP_775869.4:p.Met726Val, XP_011536526.1:p.Met724Val, XP_011536527.1:p.Met605Val, XP_011536528.1:p.Met726Val, XP_016874699.1:p.Met291Val, XP_016874697.1:p.Met726Val

Select item 148208525211.

rs1482085252 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:117761026 (GRCh38)
12:118198831 (GRCh37)
Canonical SPDI:: NC_000012.12:117761025:T:G
Gene:: KSR2 (Varview)
Functional Consequence:: 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 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.117761026T>G, NC_000012.11:g.118198831T>G, NM_173598.6:c.971A>C, NM_173598.5:c.971A>C, NM_173598.4:c.884A>C, XM_011538224.4:c.971A>C, XM_011538224.3:c.971A>C, XM_011538224.2:c.971A>C, XM_011538224.1:c.971A>C, XM_011538225.4:c.608A>C, XM_011538225.3:c.608A>C, XM_011538225.2:c.608A>C, XM_011538225.1:c.608A>C, XM_011538226.4:c.971A>C, XM_011538226.3:c.971A>C, XM_011538226.2:c.971A>C, XM_011538226.1:c.971A>C, XM_011538229.4:c.971A>C, XM_011538229.3:c.971A>C, XM_011538229.2:c.971A>C, XM_011538229.1:c.971A>C, XM_017019208.3:c.971A>C, XM_017019208.2:c.971A>C, XM_017019208.1:c.971A>C, XM_017019209.3:c.971A>C, XM_017019209.2:c.971A>C, XM_017019209.1:c.971A>C, NP_775869.4:p.Glu324Ala, XP_011536526.1:p.Glu324Ala, XP_011536527.1:p.Glu203Ala, XP_011536528.1:p.Glu324Ala, XP_011536531.1:p.Glu324Ala, XP_016874697.1:p.Glu324Ala, XP_016874698.1:p.Glu324Ala

Select item 147818952012.

rs1478189520 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:117476488 (GRCh38)
12:117914293 (GRCh37)
Canonical SPDI:: NC_000012.12:117476487:T:C
Gene:: KSR2 (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.117476488T>C, NC_000012.11:g.117914293T>C, NM_173598.6:c.2558A>G, NM_173598.5:c.2558A>G, NM_173598.4:c.2471A>G, XM_011538224.4:c.2552A>G, XM_011538224.3:c.2552A>G, XM_011538224.2:c.2552A>G, XM_011538224.1:c.2552A>G, XM_011538225.4:c.2195A>G, XM_011538225.3:c.2195A>G, XM_011538225.2:c.2195A>G, XM_011538225.1:c.2195A>G, XM_017019210.3:c.1253A>G, XM_017019210.2:c.1253A>G, XM_017019210.1:c.1253A>G, XM_017019208.3:c.2558A>G, XM_017019208.2:c.2558A>G, XM_017019208.1:c.2558A>G, NP_775869.4:p.Lys853Arg, XP_011536526.1:p.Lys851Arg, XP_011536527.1:p.Lys732Arg, XP_016874699.1:p.Lys418Arg, XP_016874697.1:p.Lys853Arg

Select item 147741968913.

rs1477419689 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:117667507 (GRCh38)
12:118105312 (GRCh37)
Canonical SPDI:: NC_000012.12:117667506:G:C
Gene:: KSR2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.117667507G>C, NC_000012.11:g.118105312G>C, NM_173598.6:c.1138C>G, NM_173598.5:c.1138C>G, NM_173598.4:c.1051C>G, XM_011538224.4:c.1138C>G, XM_011538224.3:c.1138C>G, XM_011538224.2:c.1138C>G, XM_011538224.1:c.1138C>G, XM_011538225.4:c.775C>G, XM_011538225.3:c.775C>G, XM_011538225.2:c.775C>G, XM_011538225.1:c.775C>G, XM_011538226.4:c.1138C>G, XM_011538226.3:c.1138C>G, XM_011538226.2:c.1138C>G, XM_011538226.1:c.1138C>G, XM_011538229.4:c.1138C>G, XM_011538229.3:c.1138C>G, XM_011538229.2:c.1138C>G, XM_011538229.1:c.1138C>G, XM_017019208.3:c.1138C>G, XM_017019208.2:c.1138C>G, XM_017019208.1:c.1138C>G, XM_017019209.3:c.1138C>G, XM_017019209.2:c.1138C>G, XM_017019209.1:c.1138C>G, NP_775869.4:p.Pro380Ala, XP_011536526.1:p.Pro380Ala, XP_011536527.1:p.Pro259Ala, XP_011536528.1:p.Pro380Ala, XP_011536531.1:p.Pro380Ala, XP_016874697.1:p.Pro380Ala, XP_016874698.1:p.Pro380Ala

Select item 147314817614.

rs1473148176 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:117761047 (GRCh38)
12:118198852 (GRCh37)
Canonical SPDI:: NC_000012.12:117761046:T:C
Gene:: KSR2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.117761047T>C, NC_000012.11:g.118198852T>C, NM_173598.6:c.950A>G, NM_173598.5:c.950A>G, NM_173598.4:c.863A>G, XM_011538224.4:c.950A>G, XM_011538224.3:c.950A>G, XM_011538224.2:c.950A>G, XM_011538224.1:c.950A>G, XM_011538225.4:c.587A>G, XM_011538225.3:c.587A>G, XM_011538225.2:c.587A>G, XM_011538225.1:c.587A>G, XM_011538226.4:c.950A>G, XM_011538226.3:c.950A>G, XM_011538226.2:c.950A>G, XM_011538226.1:c.950A>G, XM_011538229.4:c.950A>G, XM_011538229.3:c.950A>G, XM_011538229.2:c.950A>G, XM_011538229.1:c.950A>G, XM_017019208.3:c.950A>G, XM_017019208.2:c.950A>G, XM_017019208.1:c.950A>G, XM_017019209.3:c.950A>G, XM_017019209.2:c.950A>G, XM_017019209.1:c.950A>G, NP_775869.4:p.Gln317Arg, XP_011536526.1:p.Gln317Arg, XP_011536527.1:p.Gln196Arg, XP_011536528.1:p.Gln317Arg, XP_011536531.1:p.Gln317Arg, XP_016874697.1:p.Gln317Arg, XP_016874698.1:p.Gln317Arg

Select item 147290727215.

rs1472907272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:117484433 (GRCh38)
12:117922238 (GRCh37)
Canonical SPDI:: NC_000012.12:117484432:C:G
Gene:: KSR2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.117484433C>G, NC_000012.11:g.117922238C>G, NM_173598.6:c.2433G>C, NM_173598.5:c.2433G>C, NM_173598.4:c.2346G>C, XM_011538224.4:c.2427G>C, XM_011538224.3:c.2427G>C, XM_011538224.2:c.2427G>C, XM_011538224.1:c.2427G>C, XM_011538225.4:c.2070G>C, XM_011538225.3:c.2070G>C, XM_011538225.2:c.2070G>C, XM_011538225.1:c.2070G>C, XM_017019210.3:c.1128G>C, XM_017019210.2:c.1128G>C, XM_017019210.1:c.1128G>C, XM_017019208.3:c.2433G>C, XM_017019208.2:c.2433G>C, XM_017019208.1:c.2433G>C

Select item 147224165916.

rs1472241659 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:117667488 (GRCh38)
12:118105293 (GRCh37)
Canonical SPDI:: NC_000012.12:117667487:G:T
Gene:: KSR2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_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_000012.12:g.117667488G>T, NC_000012.11:g.118105293G>T, NM_173598.6:c.1157C>A, NM_173598.5:c.1157C>A, NM_173598.4:c.1070C>A, XM_011538224.4:c.1157C>A, XM_011538224.3:c.1157C>A, XM_011538224.2:c.1157C>A, XM_011538224.1:c.1157C>A, XM_011538225.4:c.794C>A, XM_011538225.3:c.794C>A, XM_011538225.2:c.794C>A, XM_011538225.1:c.794C>A, XM_011538226.4:c.1157C>A, XM_011538226.3:c.1157C>A, XM_011538226.2:c.1157C>A, XM_011538226.1:c.1157C>A, XM_011538229.4:c.1157C>A, XM_011538229.3:c.1157C>A, XM_011538229.2:c.1157C>A, XM_011538229.1:c.1157C>A, XM_017019208.3:c.1157C>A, XM_017019208.2:c.1157C>A, XM_017019208.1:c.1157C>A, XM_017019209.3:c.1157C>A, XM_017019209.2:c.1157C>A, XM_017019209.1:c.1157C>A, NP_775869.4:p.Ala386Asp, XP_011536526.1:p.Ala386Asp, XP_011536527.1:p.Ala265Asp, XP_011536528.1:p.Ala386Asp, XP_011536531.1:p.Ala386Asp, XP_016874697.1:p.Ala386Asp, XP_016874698.1:p.Ala386Asp

Select item 146821941817.

rs1468219418 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGGACAGCAGCGGGGAGCGCT>- [Show Flanks]
Chromosome:: 12:117667561 (GRCh38)
12:118105366 (GRCh37)
Canonical SPDI:: NC_000012.12:117667551:GGGAGCGCTCGGACAGCAGCGGGGAGCGCT:GGGAGCGCT
Gene:: KSR2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.117667561_117667581del, NC_000012.11:g.118105366_118105386del, NM_173598.6:c.1073_1093del, NM_173598.5:c.1073_1093del, NM_173598.4:c.986_1006del, XM_011538224.4:c.1073_1093del, XM_011538224.3:c.1073_1093del, XM_011538224.2:c.1073_1093del, XM_011538224.1:c.1073_1093del, XM_011538225.4:c.710_730del, XM_011538225.3:c.710_730del, XM_011538225.2:c.710_730del, XM_011538225.1:c.710_730del, XM_011538226.4:c.1073_1093del, XM_011538226.3:c.1073_1093del, XM_011538226.2:c.1073_1093del, XM_011538226.1:c.1073_1093del, XM_011538229.4:c.1073_1093del, XM_011538229.3:c.1073_1093del, XM_011538229.2:c.1073_1093del, XM_011538229.1:c.1073_1093del, XM_017019208.3:c.1073_1093del, XM_017019208.2:c.1073_1093del, XM_017019208.1:c.1073_1093del, XM_017019209.3:c.1073_1093del, XM_017019209.2:c.1073_1093del, XM_017019209.1:c.1073_1093del, NP_775869.4:p.Pro358_Ser364del, XP_011536526.1:p.Pro358_Ser364del, XP_011536527.1:p.Pro237_Ser243del, XP_011536528.1:p.Pro358_Ser364del, XP_011536531.1:p.Pro358_Ser364del, XP_016874697.1:p.Pro358_Ser364del, XP_016874698.1:p.Pro358_Ser364del

Select item 146776052918.

rs1467760529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:117761132 (GRCh38)
12:118198937 (GRCh37)
Canonical SPDI:: NC_000012.12:117761131:C:G,NC_000012.12:117761131:C:T
Gene:: KSR2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.117761132C>G, NC_000012.12:g.117761132C>T, NC_000012.11:g.118198937C>G, NC_000012.11:g.118198937C>T, NM_173598.6:c.865G>C, NM_173598.6:c.865G>A, NM_173598.5:c.865G>C, NM_173598.5:c.865G>A, NM_173598.4:c.778G>C, NM_173598.4:c.778G>A, XM_011538224.4:c.865G>C, XM_011538224.4:c.865G>A, XM_011538224.3:c.865G>C, XM_011538224.3:c.865G>A, XM_011538224.2:c.865G>C, XM_011538224.2:c.865G>A, XM_011538224.1:c.865G>C, XM_011538224.1:c.865G>A, XM_011538225.4:c.502G>C, XM_011538225.4:c.502G>A, XM_011538225.3:c.502G>C, XM_011538225.3:c.502G>A, XM_011538225.2:c.502G>C, XM_011538225.2:c.502G>A, XM_011538225.1:c.502G>C, XM_011538225.1:c.502G>A, XM_011538226.4:c.865G>C, XM_011538226.4:c.865G>A, XM_011538226.3:c.865G>C, XM_011538226.3:c.865G>A, XM_011538226.2:c.865G>C, XM_011538226.2:c.865G>A, XM_011538226.1:c.865G>C, XM_011538226.1:c.865G>A, XM_011538229.4:c.865G>C, XM_011538229.4:c.865G>A, XM_011538229.3:c.865G>C, XM_011538229.3:c.865G>A, XM_011538229.2:c.865G>C, XM_011538229.2:c.865G>A, XM_011538229.1:c.865G>C, XM_011538229.1:c.865G>A, XM_017019208.3:c.865G>C, XM_017019208.3:c.865G>A, XM_017019208.2:c.865G>C, XM_017019208.2:c.865G>A, XM_017019208.1:c.865G>C, XM_017019208.1:c.865G>A, XM_017019209.3:c.865G>C, XM_017019209.3:c.865G>A, XM_017019209.2:c.865G>C, XM_017019209.2:c.865G>A, XM_017019209.1:c.865G>C, XM_017019209.1:c.865G>A, NP_775869.4:p.Gly289Arg, NP_775869.4:p.Gly289Arg, XP_011536526.1:p.Gly289Arg, XP_011536526.1:p.Gly289Arg, XP_011536527.1:p.Gly168Arg, XP_011536527.1:p.Gly168Arg, XP_011536528.1:p.Gly289Arg, XP_011536528.1:p.Gly289Arg, XP_011536531.1:p.Gly289Arg, XP_011536531.1:p.Gly289Arg, XP_016874697.1:p.Gly289Arg, XP_016874697.1:p.Gly289Arg, XP_016874698.1:p.Gly289Arg, XP_016874698.1:p.Gly289Arg

Select item 146416919419.

rs1464169194 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:117761500 (GRCh38)
12:118199305 (GRCh37)
Canonical SPDI:: NC_000012.12:117761499:C:A
Gene:: KSR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
HGVS:: NC_000012.12:g.117761500C>A, NC_000012.11:g.118199305C>A, NM_173598.6:c.497G>T, NM_173598.5:c.497G>T, NM_173598.4:c.410G>T, XM_011538224.4:c.497G>T, XM_011538224.3:c.497G>T, XM_011538224.2:c.497G>T, XM_011538224.1:c.497G>T, XM_011538225.4:c.134G>T, XM_011538225.3:c.134G>T, XM_011538225.2:c.134G>T, XM_011538225.1:c.134G>T, XM_011538226.4:c.497G>T, XM_011538226.3:c.497G>T, XM_011538226.2:c.497G>T, XM_011538226.1:c.497G>T, XM_011538229.4:c.497G>T, XM_011538229.3:c.497G>T, XM_011538229.2:c.497G>T, XM_011538229.1:c.497G>T, XM_017019208.3:c.497G>T, XM_017019208.2:c.497G>T, XM_017019208.1:c.497G>T, XM_017019209.3:c.497G>T, XM_017019209.2:c.497G>T, XM_017019209.1:c.497G>T, NP_775869.4:p.Trp166Leu, XP_011536526.1:p.Trp166Leu, XP_011536527.1:p.Trp45Leu, XP_011536528.1:p.Trp166Leu, XP_011536531.1:p.Trp166Leu, XP_016874697.1:p.Trp166Leu, XP_016874698.1:p.Trp166Leu

Select item 146392785520.

rs1463927855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:117525010 (GRCh38)
12:117962815 (GRCh37)
Canonical SPDI:: NC_000012.12:117525009:G:A
Gene:: KSR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.117525010G>A, NC_000012.11:g.117962815G>A, NM_173598.6:c.2061C>T, NM_173598.5:c.2061C>T, NM_173598.4:c.1974C>T, XM_011538224.4:c.2055C>T, XM_011538224.3:c.2055C>T, XM_011538224.2:c.2055C>T, XM_011538224.1:c.2055C>T, XM_011538225.4:c.1698C>T, XM_011538225.3:c.1698C>T, XM_011538225.2:c.1698C>T, XM_011538225.1:c.1698C>T, XM_011538226.4:c.2061C>T, XM_011538226.3:c.2061C>T, XM_011538226.2:c.2061C>T, XM_011538226.1:c.2061C>T, XM_017019210.3:c.756C>T, XM_017019210.2:c.756C>T, XM_017019210.1:c.756C>T, XM_017019208.3:c.2061C>T, XM_017019208.2:c.2061C>T, XM_017019208.1:c.2061C>T

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