Canonical Allele Identifier: CA400859713

Gene: KCNJ2

Linked Data

• MyVariant Identifiers: chr17:g.68171214G>T (hg19) ; chr17:g.70175073G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.70175073G>T , CM000679.2:g.70175073G>T	GRCh38
NC_000017.10:g.68171214G>T , CM000679.1:g.68171214G>T	GRCh37
NC_000017.9:g.65682809G>T	NCBI36
NG_008798.1:g.10539G>T , LRG_328:g.10539G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243457.4:c.34G>T MANE Select	ENSP00000243457.2:p.Val12Phe
ENST00000243457.3:c.34G>T	ENSP00000243457.2:p.Val12Phe
ENST00000535240.1:c.34G>T	ENSP00000441848.1:p.Val12Phe
NM_000891.2:c.34G>T , LRG_328t1:c.34G>T	NP_000882.1:p.Val12Phe
XM_011524779.1:c.34G>T	XP_011523081.1:p.Val12Phe
NM_000891.3:c.34G>T MANE Select	NP_000882.1:p.Val12Phe