Canonical Allele Identifier: CA8738726

Gene: KCNJ2

Linked Data

• ClinVar Variation Id: 1738473
• ClinVar RCV Id: RCV002333452 ; RCV003775834
• dbSNP Id: rs572394146
• ExAC: 17:68171597 C / A
• gnomAD v2: 17-68171597-C-A
• gnomAD v3: 17-70175456-C-A
• gnomAD v4: 17-70175456-C-A
• MyVariant Identifiers: chr17:g.68171597C>A (hg19) ; chr17:g.70175456C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.70175456C>A , CM000679.2:g.70175456C>A	GRCh38
NC_000017.10:g.68171597C>A , CM000679.1:g.68171597C>A	GRCh37
NC_000017.9:g.65683192C>A	NCBI36
NG_008798.1:g.10922C>A , LRG_328:g.10922C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000243457.4:c.417C>A MANE Select	ENSP00000243457.2:p.Thr139=
ENST00000243457.3:c.417C>A	ENSP00000243457.2:p.Thr139=
ENST00000535240.1:c.417C>A	ENSP00000441848.1:p.Thr139=
NM_000891.2:c.417C>A , LRG_328t1:c.417C>A	NP_000882.1:p.Thr139=
XM_011524779.1:c.417C>A	XP_011523081.1:p.Thr139=
NM_000891.3:c.417C>A MANE Select	NP_000882.1:p.Thr139=