Canonical Allele Identifier: CA501700159

Gene: KCNJ2

Linked Data

• gnomAD v4: 17-70175108-C-T
• MyVariant Identifiers: chr17:g.68171249C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.70175108C>T , CM000679.2:g.70175108C>T	GRCh38
NC_000017.10:g.68171249C>T , CM000679.1:g.68171249C>T	GRCh37
NC_000017.9:g.65682844C>T	NCBI36
NG_008798.1:g.10574C>T , LRG_328:g.10574C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000243457.4:c.69C>T MANE Select	ENSP00000243457.2:p.Thr23=
ENST00000243457.3:c.69C>T	ENSP00000243457.2:p.Thr23=
ENST00000535240.1:c.69C>T	ENSP00000441848.1:p.Thr23=
NM_000891.2:c.69C>T , LRG_328t1:c.69C>T	NP_000882.1:p.Thr23=
XM_011524779.1:c.69C>T	XP_011523081.1:p.Thr23=
NM_000891.3:c.69C>T MANE Select	NP_000882.1:p.Thr23=