Canonical Allele Identifier: CA400861851
Gene: KCNJ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175773T>A , CM000679.2:g.70175773T>A GRCh38
NC_000017.10:g.68171914T>A , CM000679.1:g.68171914T>A GRCh37
NC_000017.9:g.65683509T>A NCBI36
NG_008798.1:g.11239T>A , LRG_328:g.11239T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.734T>A MANE Select ENSP00000243457.2:p.Leu245Gln
ENST00000243457.3:c.734T>A ENSP00000243457.2:p.Leu245Gln
ENST00000535240.1:c.734T>A ENSP00000441848.1:p.Leu245Gln
NM_000891.2:c.734T>A , LRG_328t1:c.734T>A NP_000882.1:p.Leu245Gln
XM_011524779.1:c.734T>A XP_011523081.1:p.Leu245Gln
NM_000891.3:c.734T>A MANE Select NP_000882.1:p.Leu245Gln