Canonical Allele Identifier: CA400863058

Gene: KCNJ2

Linked Data

• MyVariant Identifiers: chr17:g.68172185C>G (hg19) ; chr17:g.70176044C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.70176044C>G , CM000679.2:g.70176044C>G	GRCh38
NC_000017.10:g.68172185C>G , CM000679.1:g.68172185C>G	GRCh37
NC_000017.9:g.65683780C>G	NCBI36
NG_008798.1:g.11510C>G , LRG_328:g.11510C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243457.4:c.1005C>G MANE Select	ENSP00000243457.2:p.His335Gln
ENST00000243457.3:c.1005C>G	ENSP00000243457.2:p.His335Gln
ENST00000535240.1:c.1005C>G	ENSP00000441848.1:p.His335Gln
NM_000891.2:c.1005C>G , LRG_328t1:c.1005C>G	NP_000882.1:p.His335Gln
XM_011524779.1:c.1005C>G	XP_011523081.1:p.His335Gln
NM_000891.3:c.1005C>G MANE Select	NP_000882.1:p.His335Gln