Canonical Allele Identifier: CA10640413
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 324889
ClinVar RCV Id: RCV000300900 RCV000353448 RCV000406878
dbSNP Id: rs536788614
gnomAD v3: 17-70179348-G-A
gnomAD v4: 17-70179348-G-A
MyVariant Identifiers: chr17:g.68175489G>A (hg19) chr17:g.70179348G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70179348G>A , CM000679.2:g.70179348G>A GRCh38
NC_000017.10:g.68175489G>A , CM000679.1:g.68175489G>A GRCh37
NC_000017.9:g.65687084G>A NCBI36
NG_008798.1:g.14814G>A , LRG_328:g.14814G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.*3025G>A MANE Select ENSP00000243457.2:n.*3025G>A
ENST00000243457.3:c.*3025G>A ENSP00000243457.2:n.*3025G>A
NM_000891.2:c.*3025G>A , LRG_328t1:c.*3025G>A NP_000882.1:n.*3025G>A
NM_000891.3:c.*3025G>A MANE Select NP_000882.1:n.*3025G>A
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