Canonical Allele Identifier: CA501700839

Gene: KCNJ2

Linked Data

• ClinVar Variation Id: 2928531
• ClinVar RCV Id: RCV003789305
• MyVariant Identifiers: chr17:g.68171876C>T (hg19)

Genomic Alleles

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

Transcript Alleles

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