Canonical Allele Identifier: CA501700910

Gene: KCNJ2

Linked Data

• ClinVar Variation Id: 2056627
• ClinVar RCV Id: RCV002914652
• MyVariant Identifiers: chr17:g.68171942T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.70175801T>C , CM000679.2:g.70175801T>C	GRCh38
NC_000017.10:g.68171942T>C , CM000679.1:g.68171942T>C	GRCh37
NC_000017.9:g.65683537T>C	NCBI36
NG_008798.1:g.11267T>C , LRG_328:g.11267T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243457.4:c.762T>C MANE Select	ENSP00000243457.2:p.Phe254=
ENST00000243457.3:c.762T>C	ENSP00000243457.2:p.Phe254=
ENST00000535240.1:c.762T>C	ENSP00000441848.1:p.Phe254=
NM_000891.2:c.762T>C , LRG_328t1:c.762T>C	NP_000882.1:p.Phe254=
XM_011524779.1:c.762T>C	XP_011523081.1:p.Phe254=
NM_000891.3:c.762T>C MANE Select	NP_000882.1:p.Phe254=