Canonical Allele Identifier: CA400861985

Gene: KCNJ2

Linked Data

• gnomAD v4: 17-70175806-G-A
• COSMIC: COSM983660
• MyVariant Identifiers: chr17:g.68171947G>A (hg19) ; chr17:g.70175806G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.70175806G>A , CM000679.2:g.70175806G>A	GRCh38
NC_000017.10:g.68171947G>A , CM000679.1:g.68171947G>A	GRCh37
NC_000017.9:g.65683542G>A	NCBI36
NG_008798.1:g.11272G>A , LRG_328:g.11272G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243457.4:c.767G>A MANE Select	ENSP00000243457.2:p.Ser256Asn
ENST00000243457.3:c.767G>A	ENSP00000243457.2:p.Ser256Asn
ENST00000535240.1:c.767G>A	ENSP00000441848.1:p.Ser256Asn
NM_000891.2:c.767G>A , LRG_328t1:c.767G>A	NP_000882.1:p.Ser256Asn
XM_011524779.1:c.767G>A	XP_011523081.1:p.Ser256Asn
NM_000891.3:c.767G>A MANE Select	NP_000882.1:p.Ser256Asn