Canonical Allele Identifier: CA8738728

Gene: KCNJ2

Linked Data

• ClinVar Variation Id: 1585084
• ClinVar RCV Id: RCV002112414 ; RCV002331718
• dbSNP Id: rs773185250
• ExAC: 17:68171615 T / C
• gnomAD v2: 17-68171615-T-C
• gnomAD v4: 17-70175474-T-C
• MyVariant Identifiers: chr17:g.68171615T>C (hg19) ; chr17:g.70175474T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.70175474T>C , CM000679.2:g.70175474T>C	GRCh38
NC_000017.10:g.68171615T>C , CM000679.1:g.68171615T>C	GRCh37
NC_000017.9:g.65683210T>C	NCBI36
NG_008798.1:g.10940T>C , LRG_328:g.10940T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243457.4:c.435T>C MANE Select	ENSP00000243457.2:p.Tyr145=
ENST00000243457.3:c.435T>C	ENSP00000243457.2:p.Tyr145=
ENST00000535240.1:c.435T>C	ENSP00000441848.1:p.Tyr145=
NM_000891.2:c.435T>C , LRG_328t1:c.435T>C	NP_000882.1:p.Tyr145=
XM_011524779.1:c.435T>C	XP_011523081.1:p.Tyr145=
NM_000891.3:c.435T>C MANE Select	NP_000882.1:p.Tyr145=