Canonical Allele Identifier: CA400862077
Gene: KCNJ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175826C>G , CM000679.2:g.70175826C>G GRCh38
NC_000017.10:g.68171967C>G , CM000679.1:g.68171967C>G GRCh37
NC_000017.9:g.65683562C>G NCBI36
NG_008798.1:g.11292C>G , LRG_328:g.11292C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.787C>G MANE Select ENSP00000243457.2:p.Leu263Val
ENST00000243457.3:c.787C>G ENSP00000243457.2:p.Leu263Val
ENST00000535240.1:c.787C>G ENSP00000441848.1:p.Leu263Val
NM_000891.2:c.787C>G , LRG_328t1:c.787C>G NP_000882.1:p.Leu263Val
XM_011524779.1:c.787C>G XP_011523081.1:p.Leu263Val
NM_000891.3:c.787C>G MANE Select NP_000882.1:p.Leu263Val