Canonical Allele Identifier: CA8738730
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2926084
ClinVar RCV Id: RCV003786370
dbSNP Id: rs766588803
ExAC: 17:68171632 C / T
gnomAD v2: 17-68171632-C-T
gnomAD v3: 17-70175491-C-T
gnomAD v4: 17-70175491-C-T
COSMIC: COSM5502068
MyVariant Identifiers: chr17:g.68171632C>T (hg19) chr17:g.70175491C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175491C>T , CM000679.2:g.70175491C>T GRCh38
NC_000017.10:g.68171632C>T , CM000679.1:g.68171632C>T GRCh37
NC_000017.9:g.65683227C>T NCBI36
NG_008798.1:g.10957C>T , LRG_328:g.10957C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.452C>T MANE Select ENSP00000243457.2:p.Thr151Met
ENST00000243457.3:c.452C>T ENSP00000243457.2:p.Thr151Met
ENST00000535240.1:c.452C>T ENSP00000441848.1:p.Thr151Met
NM_000891.2:c.452C>T , LRG_328t1:c.452C>T NP_000882.1:p.Thr151Met
XM_011524779.1:c.452C>T XP_011523081.1:p.Thr151Met
NM_000891.3:c.452C>T MANE Select NP_000882.1:p.Thr151Met
Search 100 bp 5'
Search 100 bp 3'