SNP Links for Protein (Select 27886674) - SNP

Links from Protein

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Select item 14909570841.

rs1490957084 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 10:101843561 (GRCh38)
10:103603318 (GRCh37)
Canonical SPDI:: NC_000010.11:101843560:CCCC:CCC
Gene:: KCNIP2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
HGVS:: NC_000010.11:g.101843564del, NC_000010.10:g.103603321del, NG_029836.1:g.5360del, NM_014591.5:c.8del, NM_014591.4:c.8del, NM_173191.3:c.8del, NM_173191.2:c.8del, NM_173192.3:c.8del, NM_173192.2:c.8del, NM_173193.3:c.8del, NM_173193.2:c.8del, NM_173195.3:c.8del, NM_173195.2:c.8del, NM_173197.3:c.8del, NM_173197.2:c.8del, XM_006717812.3:c.8del, XM_006717812.2:c.8del, XM_006717812.1:c.8del, XM_005269729.3:c.8del, XM_005269729.2:c.8del, XM_005269729.1:c.8del, XM_005269730.3:c.8del, XM_005269730.2:c.8del, XM_005269730.1:c.8del, NM_173342.2:c.8del, NM_173342.1:c.8del, NP_055406.2:p.Gly3fs, NP_775283.1:p.Gly3fs, NP_775284.1:p.Gly3fs, NP_775285.1:p.Gly3fs, NP_775287.1:p.Gly3fs, NP_775289.1:p.Gly3fs, XP_006717875.1:p.Gly3fs, XP_005269786.1:p.Gly3fs, XP_005269787.1:p.Gly3fs

Select item 14860197282.

rs1486019728 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:101828162 (GRCh38)
10:103587919 (GRCh37)
Canonical SPDI:: NC_000010.11:101828161:T:C
Gene:: KCNIP2 (Varview), KCNIP2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.101828162T>C, NC_000010.10:g.103587919T>C, NG_029836.1:g.20759A>G, NM_014591.5:c.631A>G, NM_014591.4:c.631A>G, NM_173191.3:c.586A>G, NM_173191.2:c.586A>G, NM_173192.3:c.532A>G, NM_173192.2:c.532A>G, NM_173193.3:c.457A>G, NM_173193.2:c.457A>G, NM_173195.3:c.436A>G, NM_173195.2:c.436A>G, NM_173194.3:c.451A>G, NM_173194.2:c.451A>G, XM_006717812.3:c.586A>G, XM_006717812.2:c.586A>G, XM_006717812.1:c.586A>G, XM_005269729.3:c.532A>G, XM_005269729.2:c.532A>G, XM_005269729.1:c.532A>G, XM_005269730.3:c.436A>G, XM_005269730.2:c.436A>G, XM_005269730.1:c.436A>G, XM_011539731.3:c.451A>G, XM_011539731.2:c.451A>G, XM_011539731.1:c.451A>G, NM_173342.2:c.*212A>G, XM_017016161.2:c.466A>G, XM_017016161.1:c.466A>G, NM_173342.1:c.*212A>G, NP_055406.2:p.Ile211Val, NP_775283.1:p.Ile196Val, NP_775284.1:p.Ile178Val, NP_775285.1:p.Ile153Val, NP_775287.1:p.Ile146Val, NP_775286.1:p.Ile151Val, XP_006717875.1:p.Ile196Val, XP_005269786.1:p.Ile178Val, XP_005269787.1:p.Ile146Val, XP_011538033.1:p.Ile151Val, XP_016871650.1:p.Ile156Val

Select item 14805862953.

rs1480586295 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:101827362 (GRCh38)
10:103587119 (GRCh37)
Canonical SPDI:: NC_000010.11:101827361:A:G
Gene:: KCNIP2 (Varview), KCNIP2-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.101827362A>G, NC_000010.10:g.103587119A>G, NG_029836.1:g.21559T>C, NM_014591.5:c.849T>C, NM_014591.4:c.849T>C, NM_173191.3:c.804T>C, NM_173191.2:c.804T>C, NM_173192.3:c.750T>C, NM_173192.2:c.750T>C, NM_173193.3:c.675T>C, NM_173193.2:c.675T>C, NM_173195.3:c.654T>C, NM_173195.2:c.654T>C, NM_173194.3:c.669T>C, NM_173194.2:c.669T>C, NM_173342.2:c.*430T>C, XM_017016161.2:c.684T>C, XM_017016161.1:c.684T>C, NM_173342.1:c.*430T>C

Select item 14639958194.

rs1463995819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:101828175 (GRCh38)
10:103587932 (GRCh37)
Canonical SPDI:: NC_000010.11:101828174:G:A
Gene:: KCNIP2 (Varview), KCNIP2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.101828175G>A, NC_000010.10:g.103587932G>A, NG_029836.1:g.20746C>T, NM_014591.5:c.618C>T, NM_014591.4:c.618C>T, NM_173191.3:c.573C>T, NM_173191.2:c.573C>T, NM_173192.3:c.519C>T, NM_173192.2:c.519C>T, NM_173193.3:c.444C>T, NM_173193.2:c.444C>T, NM_173195.3:c.423C>T, NM_173195.2:c.423C>T, NM_173194.3:c.438C>T, NM_173194.2:c.438C>T, XM_006717812.3:c.573C>T, XM_006717812.2:c.573C>T, XM_006717812.1:c.573C>T, XM_005269729.3:c.519C>T, XM_005269729.2:c.519C>T, XM_005269729.1:c.519C>T, XM_005269730.3:c.423C>T, XM_005269730.2:c.423C>T, XM_005269730.1:c.423C>T, XM_011539731.3:c.438C>T, XM_011539731.2:c.438C>T, XM_011539731.1:c.438C>T, NM_173342.2:c.*199C>T, XM_017016161.2:c.453C>T, XM_017016161.1:c.453C>T, NM_173342.1:c.*199C>T

Select item 14559656875.

rs1455965687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:101828187 (GRCh38)
10:103587944 (GRCh37)
Canonical SPDI:: NC_000010.11:101828186:C:A,NC_000010.11:101828186:C:T
Gene:: KCNIP2 (Varview), KCNIP2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.101828187C>A, NC_000010.11:g.101828187C>T, NC_000010.10:g.103587944C>A, NC_000010.10:g.103587944C>T, NG_029836.1:g.20734G>T, NG_029836.1:g.20734G>A, NM_014591.5:c.606G>T, NM_014591.5:c.606G>A, NM_014591.4:c.606G>T, NM_014591.4:c.606G>A, NM_173191.3:c.561G>T, NM_173191.3:c.561G>A, NM_173191.2:c.561G>T, NM_173191.2:c.561G>A, NM_173192.3:c.507G>T, NM_173192.3:c.507G>A, NM_173192.2:c.507G>T, NM_173192.2:c.507G>A, NM_173193.3:c.432G>T, NM_173193.3:c.432G>A, NM_173193.2:c.432G>T, NM_173193.2:c.432G>A, NM_173195.3:c.411G>T, NM_173195.3:c.411G>A, NM_173195.2:c.411G>T, NM_173195.2:c.411G>A, NM_173194.3:c.426G>T, NM_173194.3:c.426G>A, NM_173194.2:c.426G>T, NM_173194.2:c.426G>A, XM_006717812.3:c.561G>T, XM_006717812.3:c.561G>A, XM_006717812.2:c.561G>T, XM_006717812.2:c.561G>A, XM_006717812.1:c.561G>T, XM_006717812.1:c.561G>A, XM_005269729.3:c.507G>T, XM_005269729.3:c.507G>A, XM_005269729.2:c.507G>T, XM_005269729.2:c.507G>A, XM_005269729.1:c.507G>T, XM_005269729.1:c.507G>A, XM_005269730.3:c.411G>T, XM_005269730.3:c.411G>A, XM_005269730.2:c.411G>T, XM_005269730.2:c.411G>A, XM_005269730.1:c.411G>T, XM_005269730.1:c.411G>A, XM_011539731.3:c.426G>T, XM_011539731.3:c.426G>A, XM_011539731.2:c.426G>T, XM_011539731.2:c.426G>A, XM_011539731.1:c.426G>T, XM_011539731.1:c.426G>A, NM_173342.2:c.*187G>T, NM_173342.2:c.*187G>A, XM_017016161.2:c.441G>T, XM_017016161.2:c.441G>A, XM_017016161.1:c.441G>T, XM_017016161.1:c.441G>A, NM_173342.1:c.*187G>T, NM_173342.1:c.*187G>A, NR_045118.1:n.268C>A, NR_045118.1:n.268C>T

Select item 14547032146.

rs1454703214 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:101828253 (GRCh38)
10:103588010 (GRCh37)
Canonical SPDI:: NC_000010.11:101828252:A:G
Gene:: KCNIP2 (Varview), KCNIP2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000010.11:g.101828253A>G, NC_000010.10:g.103588010A>G, NG_029836.1:g.20668T>C, NM_014591.5:c.540T>C, NM_014591.4:c.540T>C, NM_173191.3:c.495T>C, NM_173191.2:c.495T>C, NM_173192.3:c.441T>C, NM_173192.2:c.441T>C, NM_173193.3:c.366T>C, NM_173193.2:c.366T>C, NM_173195.3:c.345T>C, NM_173195.2:c.345T>C, NM_173194.3:c.360T>C, NM_173194.2:c.360T>C, XM_006717812.3:c.495T>C, XM_006717812.2:c.495T>C, XM_006717812.1:c.495T>C, XM_005269729.3:c.441T>C, XM_005269729.2:c.441T>C, XM_005269729.1:c.441T>C, XM_005269730.3:c.345T>C, XM_005269730.2:c.345T>C, XM_005269730.1:c.345T>C, XM_011539731.3:c.360T>C, XM_011539731.2:c.360T>C, XM_011539731.1:c.360T>C, NM_173342.2:c.*121T>C, XM_017016161.2:c.375T>C, XM_017016161.1:c.375T>C, NM_173342.1:c.*121T>C, NR_045118.1:n.334A>G

Select item 14489967487.

rs1448996748 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:101827727 (GRCh38)
10:103587484 (GRCh37)
Canonical SPDI:: NC_000010.11:101827726:C:T
Gene:: KCNIP2 (Varview), KCNIP2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000010.11:g.101827727C>T, NC_000010.10:g.103587484C>T, NG_029836.1:g.21194G>A, NM_014591.5:c.772G>A, NM_014591.4:c.772G>A, NM_173191.3:c.727G>A, NM_173191.2:c.727G>A, NM_173192.3:c.673G>A, NM_173192.2:c.673G>A, NM_173193.3:c.598G>A, NM_173193.2:c.598G>A, NM_173195.3:c.577G>A, NM_173195.2:c.577G>A, NM_173194.3:c.592G>A, NM_173194.2:c.592G>A, NM_173197.3:c.469G>A, NM_173197.2:c.469G>A, XM_006717812.3:c.727G>A, XM_006717812.2:c.727G>A, XM_006717812.1:c.727G>A, XM_005269729.3:c.673G>A, XM_005269729.2:c.673G>A, XM_005269729.1:c.673G>A, XM_005269730.3:c.577G>A, XM_005269730.2:c.577G>A, XM_005269730.1:c.577G>A, XM_011539731.3:c.592G>A, XM_011539731.2:c.592G>A, XM_011539731.1:c.592G>A, NM_173342.2:c.*353G>A, XM_017016161.2:c.607G>A, XM_017016161.1:c.607G>A, NM_173342.1:c.*353G>A, NP_055406.2:p.Val258Met, NP_775283.1:p.Val243Met, NP_775284.1:p.Val225Met, NP_775285.1:p.Val200Met, NP_775287.1:p.Val193Met, NP_775286.1:p.Val198Met, NP_775289.1:p.Val157Met, XP_006717875.1:p.Val243Met, XP_005269786.1:p.Val225Met, XP_005269787.1:p.Val193Met, XP_011538033.1:p.Val198Met, XP_016871650.1:p.Val203Met

Select item 14409605028.

rs1440960502 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:101828669 (GRCh38)
10:103588426 (GRCh37)
Canonical SPDI:: NC_000010.11:101828668:C:T
Gene:: KCNIP2 (Varview), KCNIP2-AS1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.101828669C>T, NC_000010.10:g.103588426C>T, NG_029836.1:g.20252G>A, NM_014591.5:c.421G>A, NM_014591.4:c.421G>A, NM_173191.3:c.376G>A, NM_173191.2:c.376G>A, NM_173192.3:c.322G>A, NM_173192.2:c.322G>A, NM_173193.3:c.247G>A, NM_173193.2:c.247G>A, NM_173195.3:c.226G>A, NM_173195.2:c.226G>A, NM_173194.3:c.241G>A, NM_173194.2:c.241G>A, NM_173197.3:c.226G>A, NM_173197.2:c.226G>A, XM_006717812.3:c.376G>A, XM_006717812.2:c.376G>A, XM_006717812.1:c.376G>A, XM_005269729.3:c.322G>A, XM_005269729.2:c.322G>A, XM_005269729.1:c.322G>A, XM_005269730.3:c.226G>A, XM_005269730.2:c.226G>A, XM_005269730.1:c.226G>A, XM_011539731.3:c.241G>A, XM_011539731.2:c.241G>A, XM_011539731.1:c.241G>A, NM_173342.2:c.*2G>A, XM_017016161.2:c.256G>A, XM_017016161.1:c.256G>A, NM_173342.1:c.*2G>A, NR_045118.1:n.750C>T, NP_055406.2:p.Glu141Lys, NP_775283.1:p.Glu126Lys, NP_775284.1:p.Glu108Lys, NP_775285.1:p.Glu83Lys, NP_775287.1:p.Glu76Lys, NP_775286.1:p.Glu81Lys, NP_775289.1:p.Glu76Lys, XP_006717875.1:p.Glu126Lys, XP_005269786.1:p.Glu108Lys, XP_005269787.1:p.Glu76Lys, XP_011538033.1:p.Glu81Lys, XP_016871650.1:p.Glu86Lys

Select item 14359978699.

rs1435997869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:101827931 (GRCh38)
10:103587688 (GRCh37)
Canonical SPDI:: NC_000010.11:101827930:G:C
Gene:: KCNIP2 (Varview), KCNIP2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.101827931G>C, NC_000010.10:g.103587688G>C, NG_029836.1:g.20990C>G, NM_014591.5:c.705C>G, NM_014591.4:c.705C>G, NM_173191.3:c.660C>G, NM_173191.2:c.660C>G, NM_173192.3:c.606C>G, NM_173192.2:c.606C>G, NM_173193.3:c.531C>G, NM_173193.2:c.531C>G, NM_173195.3:c.510C>G, NM_173195.2:c.510C>G, NM_173194.3:c.525C>G, NM_173194.2:c.525C>G, NM_173197.3:c.402C>G, NM_173197.2:c.402C>G, XM_006717812.3:c.660C>G, XM_006717812.2:c.660C>G, XM_006717812.1:c.660C>G, XM_005269729.3:c.606C>G, XM_005269729.2:c.606C>G, XM_005269729.1:c.606C>G, XM_005269730.3:c.510C>G, XM_005269730.2:c.510C>G, XM_005269730.1:c.510C>G, XM_011539731.3:c.525C>G, XM_011539731.2:c.525C>G, XM_011539731.1:c.525C>G, NM_173342.2:c.*286C>G, XM_017016161.2:c.540C>G, XM_017016161.1:c.540C>G, NM_173342.1:c.*286C>G, NR_045118.1:n.253G>C

Select item 143439107210.

rs1434391072 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:101828215 (GRCh38)
10:103587972 (GRCh37)
Canonical SPDI:: NC_000010.11:101828214:T:G
Gene:: KCNIP2 (Varview), KCNIP2-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.101828215T>G, NC_000010.10:g.103587972T>G, NG_029836.1:g.20706A>C, NM_014591.5:c.578A>C, NM_014591.4:c.578A>C, NM_173191.3:c.533A>C, NM_173191.2:c.533A>C, NM_173192.3:c.479A>C, NM_173192.2:c.479A>C, NM_173193.3:c.404A>C, NM_173193.2:c.404A>C, NM_173195.3:c.383A>C, NM_173195.2:c.383A>C, NM_173194.3:c.398A>C, NM_173194.2:c.398A>C, XM_006717812.3:c.533A>C, XM_006717812.2:c.533A>C, XM_006717812.1:c.533A>C, XM_005269729.3:c.479A>C, XM_005269729.2:c.479A>C, XM_005269729.1:c.479A>C, XM_005269730.3:c.383A>C, XM_005269730.2:c.383A>C, XM_005269730.1:c.383A>C, XM_011539731.3:c.398A>C, XM_011539731.2:c.398A>C, XM_011539731.1:c.398A>C, NM_173342.2:c.*159A>C, XM_017016161.2:c.413A>C, XM_017016161.1:c.413A>C, NM_173342.1:c.*159A>C, NR_045118.1:n.296T>G, NP_055406.2:p.Asp193Ala, NP_775283.1:p.Asp178Ala, NP_775284.1:p.Asp160Ala, NP_775285.1:p.Asp135Ala, NP_775287.1:p.Asp128Ala, NP_775286.1:p.Asp133Ala, XP_006717875.1:p.Asp178Ala, XP_005269786.1:p.Asp160Ala, XP_005269787.1:p.Asp128Ala, XP_011538033.1:p.Asp133Ala, XP_016871650.1:p.Asp138Ala

Select item 142277253511.

rs1422772535 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 10:101828712 (GRCh38)
10:103588469 (GRCh37)
Canonical SPDI:: NC_000010.11:101828710:CAC:C
Gene:: KCNIP2 (Varview), KCNIP2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.101828712_101828713del, NC_000010.10:g.103588469_103588470del, NG_029836.1:g.20209_20210del, NM_173193.3:c.204_205del, NM_173193.2:c.204_205del, NR_045118.1:n.793_794del, NP_775285.1:p.Ala69fs

Select item 141846500512.

rs1418465005 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:101843506 (GRCh38)
10:103603263 (GRCh37)
Canonical SPDI:: NC_000010.11:101843505:G:A
Gene:: KCNIP2 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.101843506G>A, NC_000010.10:g.103603263G>A, NG_029836.1:g.5415C>T, NM_014591.5:c.63C>T, NM_014591.4:c.63C>T, NM_173191.3:c.63C>T, NM_173191.2:c.63C>T, NM_173192.3:c.63C>T, NM_173192.2:c.63C>T, NM_173193.3:c.63C>T, NM_173193.2:c.63C>T, NM_173195.3:c.63C>T, NM_173195.2:c.63C>T, NM_173197.3:c.63C>T, NM_173197.2:c.63C>T, XM_006717812.3:c.63C>T, XM_006717812.2:c.63C>T, XM_006717812.1:c.63C>T, XM_005269729.3:c.63C>T, XM_005269729.2:c.63C>T, XM_005269729.1:c.63C>T, XM_005269730.3:c.63C>T, XM_005269730.2:c.63C>T, XM_005269730.1:c.63C>T, NM_173342.2:c.63C>T, NM_173342.1:c.63C>T

Select item 141209989613.

rs1412099896 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:101843564 (GRCh38)
10:103603321 (GRCh37)
Canonical SPDI:: NC_000010.11:101843563:C:T
Gene:: KCNIP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000106/2 (TOMMO)
HGVS:: NC_000010.11:g.101843564C>T, NC_000010.10:g.103603321C>T, NG_029836.1:g.5357G>A, NM_014591.5:c.5G>A, NM_014591.4:c.5G>A, NM_173191.3:c.5G>A, NM_173191.2:c.5G>A, NM_173192.3:c.5G>A, NM_173192.2:c.5G>A, NM_173193.3:c.5G>A, NM_173193.2:c.5G>A, NM_173195.3:c.5G>A, NM_173195.2:c.5G>A, NM_173197.3:c.5G>A, NM_173197.2:c.5G>A, XM_006717812.3:c.5G>A, XM_006717812.2:c.5G>A, XM_006717812.1:c.5G>A, XM_005269729.3:c.5G>A, XM_005269729.2:c.5G>A, XM_005269729.1:c.5G>A, XM_005269730.3:c.5G>A, XM_005269730.2:c.5G>A, XM_005269730.1:c.5G>A, NM_173342.2:c.5G>A, NM_173342.1:c.5G>A, NP_055406.2:p.Arg2Gln, NP_775283.1:p.Arg2Gln, NP_775284.1:p.Arg2Gln, NP_775285.1:p.Arg2Gln, NP_775287.1:p.Arg2Gln, NP_775289.1:p.Arg2Gln, XP_006717875.1:p.Arg2Gln, XP_005269786.1:p.Arg2Gln, XP_005269787.1:p.Arg2Gln

Select item 140160792314.

rs1401607923 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:101829151 (GRCh38)
10:103588908 (GRCh37)
Canonical SPDI:: NC_000010.11:101829150:T:C
Gene:: KCNIP2 (Varview), KCNIP2-AS1 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.101829151T>C, NC_000010.10:g.103588908T>C, NG_029836.1:g.19770A>G, NM_014591.5:c.317A>G, NM_014591.4:c.317A>G, NM_173191.3:c.272A>G, NM_173191.2:c.272A>G, NM_173192.3:c.218A>G, NM_173192.2:c.218A>G, NM_173193.3:c.122A>G, NM_173193.2:c.122A>G, NM_173195.3:c.122A>G, NM_173195.2:c.122A>G, NM_173194.3:c.137A>G, NM_173194.2:c.137A>G, NM_173197.3:c.122A>G, NM_173197.2:c.122A>G, XM_006717812.3:c.272A>G, XM_006717812.2:c.272A>G, XM_006717812.1:c.272A>G, XM_005269729.3:c.218A>G, XM_005269729.2:c.218A>G, XM_005269729.1:c.218A>G, XM_005269730.3:c.122A>G, XM_005269730.2:c.122A>G, XM_005269730.1:c.122A>G, XM_011539731.3:c.137A>G, XM_011539731.2:c.137A>G, XM_011539731.1:c.137A>G, NM_173342.2:c.317A>G, XM_017016161.2:c.152A>G, XM_017016161.1:c.152A>G, NM_173342.1:c.317A>G, NP_055406.2:p.Glu106Gly, NP_775283.1:p.Glu91Gly, NP_775284.1:p.Glu73Gly, NP_775285.1:p.Glu41Gly, NP_775287.1:p.Glu41Gly, NP_775286.1:p.Glu46Gly, NP_775289.1:p.Glu41Gly, XP_006717875.1:p.Glu91Gly, XP_005269786.1:p.Glu73Gly, XP_005269787.1:p.Glu41Gly, XP_011538033.1:p.Glu46Gly, XP_016871650.1:p.Glu51Gly

Select item 139932806315.

rs1399328063 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:101827958 (GRCh38)
10:103587715 (GRCh37)
Canonical SPDI:: NC_000010.11:101827957:C:G
Gene:: KCNIP2 (Varview), KCNIP2-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.101827958C>G, NC_000010.10:g.103587715C>G, NG_029836.1:g.20963G>C, NM_014591.5:c.678G>C, NM_014591.4:c.678G>C, NM_173191.3:c.633G>C, NM_173191.2:c.633G>C, NM_173192.3:c.579G>C, NM_173192.2:c.579G>C, NM_173193.3:c.504G>C, NM_173193.2:c.504G>C, NM_173195.3:c.483G>C, NM_173195.2:c.483G>C, NM_173194.3:c.498G>C, NM_173194.2:c.498G>C, NM_173197.3:c.375G>C, NM_173197.2:c.375G>C, XM_006717812.3:c.633G>C, XM_006717812.2:c.633G>C, XM_006717812.1:c.633G>C, XM_005269729.3:c.579G>C, XM_005269729.2:c.579G>C, XM_005269729.1:c.579G>C, XM_005269730.3:c.483G>C, XM_005269730.2:c.483G>C, XM_005269730.1:c.483G>C, XM_011539731.3:c.498G>C, XM_011539731.2:c.498G>C, XM_011539731.1:c.498G>C, NM_173342.2:c.*259G>C, XM_017016161.2:c.513G>C, XM_017016161.1:c.513G>C, NM_173342.1:c.*259G>C, NP_055406.2:p.Met226Ile, NP_775283.1:p.Met211Ile, NP_775284.1:p.Met193Ile, NP_775285.1:p.Met168Ile, NP_775287.1:p.Met161Ile, NP_775286.1:p.Met166Ile, NP_775289.1:p.Met125Ile, XP_006717875.1:p.Met211Ile, XP_005269786.1:p.Met193Ile, XP_005269787.1:p.Met161Ile, XP_011538033.1:p.Met166Ile, XP_016871650.1:p.Met171Ile

Select item 139821687116.

rs1398216871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:101828228 (GRCh38)
10:103587985 (GRCh37)
Canonical SPDI:: NC_000010.11:101828227:G:A,NC_000010.11:101828227:G:T
Gene:: KCNIP2 (Varview), KCNIP2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.101828228G>A, NC_000010.11:g.101828228G>T, NC_000010.10:g.103587985G>A, NC_000010.10:g.103587985G>T, NG_029836.1:g.20693C>T, NG_029836.1:g.20693C>A, NM_014591.5:c.565C>T, NM_014591.5:c.565C>A, NM_014591.4:c.565C>T, NM_014591.4:c.565C>A, NM_173191.3:c.520C>T, NM_173191.3:c.520C>A, NM_173191.2:c.520C>T, NM_173191.2:c.520C>A, NM_173192.3:c.466C>T, NM_173192.3:c.466C>A, NM_173192.2:c.466C>T, NM_173192.2:c.466C>A, NM_173193.3:c.391C>T, NM_173193.3:c.391C>A, NM_173193.2:c.391C>T, NM_173193.2:c.391C>A, NM_173195.3:c.370C>T, NM_173195.3:c.370C>A, NM_173195.2:c.370C>T, NM_173195.2:c.370C>A, NM_173194.3:c.385C>T, NM_173194.3:c.385C>A, NM_173194.2:c.385C>T, NM_173194.2:c.385C>A, XM_006717812.3:c.520C>T, XM_006717812.3:c.520C>A, XM_006717812.2:c.520C>T, XM_006717812.2:c.520C>A, XM_006717812.1:c.520C>T, XM_006717812.1:c.520C>A, XM_005269729.3:c.466C>T, XM_005269729.3:c.466C>A, XM_005269729.2:c.466C>T, XM_005269729.2:c.466C>A, XM_005269729.1:c.466C>T, XM_005269729.1:c.466C>A, XM_005269730.3:c.370C>T, XM_005269730.3:c.370C>A, XM_005269730.2:c.370C>T, XM_005269730.2:c.370C>A, XM_005269730.1:c.370C>T, XM_005269730.1:c.370C>A, XM_011539731.3:c.385C>T, XM_011539731.3:c.385C>A, XM_011539731.2:c.385C>T, XM_011539731.2:c.385C>A, XM_011539731.1:c.385C>T, XM_011539731.1:c.385C>A, NM_173342.2:c.*146C>T, NM_173342.2:c.*146C>A, XM_017016161.2:c.400C>T, XM_017016161.2:c.400C>A, XM_017016161.1:c.400C>T, XM_017016161.1:c.400C>A, NM_173342.1:c.*146C>T, NM_173342.1:c.*146C>A, NR_045118.1:n.309G>A, NR_045118.1:n.309G>T, NP_055406.2:p.Arg189Trp, NP_775283.1:p.Arg174Trp, NP_775284.1:p.Arg156Trp, NP_775285.1:p.Arg131Trp, NP_775287.1:p.Arg124Trp, NP_775286.1:p.Arg129Trp, XP_006717875.1:p.Arg174Trp, XP_005269786.1:p.Arg156Trp, XP_005269787.1:p.Arg124Trp, XP_011538033.1:p.Arg129Trp, XP_016871650.1:p.Arg134Trp

Select item 139627510717.

rs1396275107 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 10:101828185 (GRCh38)
10:103587942 (GRCh37)
Canonical SPDI:: NC_000010.11:101828184:T:A,NC_000010.11:101828184:T:C
Gene:: KCNIP2 (Varview), KCNIP2-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_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_000010.11:g.101828185T>A, NC_000010.11:g.101828185T>C, NC_000010.10:g.103587942T>A, NC_000010.10:g.103587942T>C, NG_029836.1:g.20736A>T, NG_029836.1:g.20736A>G, NM_014591.5:c.608A>T, NM_014591.5:c.608A>G, NM_014591.4:c.608A>T, NM_014591.4:c.608A>G, NM_173191.3:c.563A>T, NM_173191.3:c.563A>G, NM_173191.2:c.563A>T, NM_173191.2:c.563A>G, NM_173192.3:c.509A>T, NM_173192.3:c.509A>G, NM_173192.2:c.509A>T, NM_173192.2:c.509A>G, NM_173193.3:c.434A>T, NM_173193.3:c.434A>G, NM_173193.2:c.434A>T, NM_173193.2:c.434A>G, NM_173195.3:c.413A>T, NM_173195.3:c.413A>G, NM_173195.2:c.413A>T, NM_173195.2:c.413A>G, NM_173194.3:c.428A>T, NM_173194.3:c.428A>G, NM_173194.2:c.428A>T, NM_173194.2:c.428A>G, XM_006717812.3:c.563A>T, XM_006717812.3:c.563A>G, XM_006717812.2:c.563A>T, XM_006717812.2:c.563A>G, XM_006717812.1:c.563A>T, XM_006717812.1:c.563A>G, XM_005269729.3:c.509A>T, XM_005269729.3:c.509A>G, XM_005269729.2:c.509A>T, XM_005269729.2:c.509A>G, XM_005269729.1:c.509A>T, XM_005269729.1:c.509A>G, XM_005269730.3:c.413A>T, XM_005269730.3:c.413A>G, XM_005269730.2:c.413A>T, XM_005269730.2:c.413A>G, XM_005269730.1:c.413A>T, XM_005269730.1:c.413A>G, XM_011539731.3:c.428A>T, XM_011539731.3:c.428A>G, XM_011539731.2:c.428A>T, XM_011539731.2:c.428A>G, XM_011539731.1:c.428A>T, XM_011539731.1:c.428A>G, NM_173342.2:c.*189A>T, NM_173342.2:c.*189A>G, XM_017016161.2:c.443A>T, XM_017016161.2:c.443A>G, XM_017016161.1:c.443A>T, XM_017016161.1:c.443A>G, NM_173342.1:c.*189A>T, NM_173342.1:c.*189A>G, NR_045118.1:n.266T>A, NR_045118.1:n.266T>C, NP_055406.2:p.Tyr203Phe, NP_055406.2:p.Tyr203Cys, NP_775283.1:p.Tyr188Phe, NP_775283.1:p.Tyr188Cys, NP_775284.1:p.Tyr170Phe, NP_775284.1:p.Tyr170Cys, NP_775285.1:p.Tyr145Phe, NP_775285.1:p.Tyr145Cys, NP_775287.1:p.Tyr138Phe, NP_775287.1:p.Tyr138Cys, NP_775286.1:p.Tyr143Phe, NP_775286.1:p.Tyr143Cys, XP_006717875.1:p.Tyr188Phe, XP_006717875.1:p.Tyr188Cys, XP_005269786.1:p.Tyr170Phe, XP_005269786.1:p.Tyr170Cys, XP_005269787.1:p.Tyr138Phe, XP_005269787.1:p.Tyr138Cys, XP_011538033.1:p.Tyr143Phe, XP_011538033.1:p.Tyr143Cys, XP_016871650.1:p.Tyr148Phe, XP_016871650.1:p.Tyr148Cys

Select item 139264398518.

rs1392643985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:101829135 (GRCh38)
10:103588892 (GRCh37)
Canonical SPDI:: NC_000010.11:101829134:C:T
Gene:: KCNIP2 (Varview), KCNIP2-AS1 (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_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_000010.11:g.101829135C>T, NC_000010.10:g.103588892C>T, NG_029836.1:g.19786G>A, NM_014591.5:c.333G>A, NM_014591.4:c.333G>A, NM_173191.3:c.288G>A, NM_173191.2:c.288G>A, NM_173192.3:c.234G>A, NM_173192.2:c.234G>A, NM_173193.3:c.138G>A, NM_173193.2:c.138G>A, NM_173195.3:c.138G>A, NM_173195.2:c.138G>A, NM_173194.3:c.153G>A, NM_173194.2:c.153G>A, NM_173197.3:c.138G>A, NM_173197.2:c.138G>A, XM_006717812.3:c.288G>A, XM_006717812.2:c.288G>A, XM_006717812.1:c.288G>A, XM_005269729.3:c.234G>A, XM_005269729.2:c.234G>A, XM_005269729.1:c.234G>A, XM_005269730.3:c.138G>A, XM_005269730.2:c.138G>A, XM_005269730.1:c.138G>A, XM_011539731.3:c.153G>A, XM_011539731.2:c.153G>A, XM_011539731.1:c.153G>A, NM_173342.2:c.333G>A, XM_017016161.2:c.168G>A, XM_017016161.1:c.168G>A, NM_173342.1:c.333G>A

Select item 138925107219.

rs1389251072 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:101828227 (GRCh38)
10:103587984 (GRCh37)
Canonical SPDI:: NC_000010.11:101828226:C:T
Gene:: KCNIP2 (Varview), KCNIP2-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_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_000010.11:g.101828227C>T, NC_000010.10:g.103587984C>T, NG_029836.1:g.20694G>A, NM_014591.5:c.566G>A, NM_014591.4:c.566G>A, NM_173191.3:c.521G>A, NM_173191.2:c.521G>A, NM_173192.3:c.467G>A, NM_173192.2:c.467G>A, NM_173193.3:c.392G>A, NM_173193.2:c.392G>A, NM_173195.3:c.371G>A, NM_173195.2:c.371G>A, NM_173194.3:c.386G>A, NM_173194.2:c.386G>A, XM_006717812.3:c.521G>A, XM_006717812.2:c.521G>A, XM_006717812.1:c.521G>A, XM_005269729.3:c.467G>A, XM_005269729.2:c.467G>A, XM_005269729.1:c.467G>A, XM_005269730.3:c.371G>A, XM_005269730.2:c.371G>A, XM_005269730.1:c.371G>A, XM_011539731.3:c.386G>A, XM_011539731.2:c.386G>A, XM_011539731.1:c.386G>A, NM_173342.2:c.*147G>A, XM_017016161.2:c.401G>A, XM_017016161.1:c.401G>A, NM_173342.1:c.*147G>A, NR_045118.1:n.308C>T, NP_055406.2:p.Arg189Gln, NP_775283.1:p.Arg174Gln, NP_775284.1:p.Arg156Gln, NP_775285.1:p.Arg131Gln, NP_775287.1:p.Arg124Gln, NP_775286.1:p.Arg129Gln, XP_006717875.1:p.Arg174Gln, XP_005269786.1:p.Arg156Gln, XP_005269787.1:p.Arg124Gln, XP_011538033.1:p.Arg129Gln, XP_016871650.1:p.Arg134Gln

Select item 138508766420.

rs1385087664 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:101828679 (GRCh38)
10:103588436 (GRCh37)
Canonical SPDI:: NC_000010.11:101828678:A:T
Gene:: KCNIP2 (Varview), KCNIP2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.101828679A>T, NC_000010.10:g.103588436A>T, NG_029836.1:g.20242T>A, NM_014591.5:c.411T>A, NM_014591.4:c.411T>A, NM_173191.3:c.366T>A, NM_173191.2:c.366T>A, NM_173192.3:c.312T>A, NM_173192.2:c.312T>A, NM_173193.3:c.237T>A, NM_173193.2:c.237T>A, NM_173195.3:c.216T>A, NM_173195.2:c.216T>A, NM_173194.3:c.231T>A, NM_173194.2:c.231T>A, NM_173197.3:c.216T>A, NM_173197.2:c.216T>A, XM_006717812.3:c.366T>A, XM_006717812.2:c.366T>A, XM_006717812.1:c.366T>A, XM_005269729.3:c.312T>A, XM_005269729.2:c.312T>A, XM_005269729.1:c.312T>A, XM_005269730.3:c.216T>A, XM_005269730.2:c.216T>A, XM_005269730.1:c.216T>A, XM_011539731.3:c.231T>A, XM_011539731.2:c.231T>A, XM_011539731.1:c.231T>A, NM_173342.2:c.439T>A, XM_017016161.2:c.246T>A, XM_017016161.1:c.246T>A, NM_173342.1:c.439T>A, NR_045118.1:n.760A>T

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