Canonical Allele Identifier: CA501700837
Gene: KCNJ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.68171876C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175735C>A , CM000679.2:g.70175735C>A GRCh38
NC_000017.10:g.68171876C>A , CM000679.1:g.68171876C>A GRCh37
NC_000017.9:g.65683471C>A NCBI36
NG_008798.1:g.11201C>A , LRG_328:g.11201C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.696C>A MANE Select ENSP00000243457.2:p.Leu232=
ENST00000243457.3:c.696C>A ENSP00000243457.2:p.Leu232=
ENST00000535240.1:c.696C>A ENSP00000441848.1:p.Leu232=
NM_000891.2:c.696C>A , LRG_328t1:c.696C>A NP_000882.1:p.Leu232=
XM_011524779.1:c.696C>A XP_011523081.1:p.Leu232=
NM_000891.3:c.696C>A MANE Select NP_000882.1:p.Leu232=