Canonical Allele Identifier: CA37744315

Gene: KCNK2

Linked Data

• dbSNP Id: rs12039875
• gnomAD v2: 1-215269804-A-C
• gnomAD v3: 1-215096461-A-C
• gnomAD v4: 1-215096461-A-C
• MyVariant Identifiers: chr1:g.215269804A>C (hg19) ; chr1:g.215096461A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215096461A>C , CM000663.2:g.215096461A>C	GRCh38
NC_000001.10:g.215269804A>C , CM000663.1:g.215269804A>C	GRCh37
NC_000001.9:g.213336427A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000444842.7:c.357+9783A>C MANE Select	ENSP00000394033.2:n.357+9783A>C
ENST00000391894.6:c.312+9783A>C	ENSP00000375764.2:n.312+9783A>C
ENST00000391895.6:c.345+9783A>C	ENSP00000375765.2:n.345+9783A>C
ENST00000444842.6:c.357+9783A>C	ENSP00000394033.2:n.357+9783A>C
ENST00000457122.1:c.189+9783A>C	ENSP00000413460.1:n.189+9783A>C
ENST00000467031.5:c.345+9783A>C	ENSP00000420203.1:n.345+9783A>C
ENST00000470177.5:c.357+9783A>C	ENSP00000419633.1:n.357+9783A>C
ENST00000474771.5:c.312+9783A>C	ENSP00000420499.1:n.312+9783A>C
ENST00000478774.5:c.189+9783A>C	ENSP00000420569.1:n.189+9783A>C
ENST00000486921.5:c.345+9783A>C	ENSP00000418706.1:n.345+9783A>C
NM_001017424.2:c.345+9783A>C	NP_001017424.1:n.345+9783A>C
NM_001017425.2:c.357+9783A>C	NP_001017425.2:n.357+9783A>C
NM_014217.3:c.312+9783A>C	NP_055032.1:n.312+9783A>C
XM_011509521.1:c.315+9783A>C	XP_011507823.1:n.315+9783A>C
XM_011509522.1:c.189+9783A>C	XP_011507824.1:n.189+9783A>C
XM_011509523.1:c.189+9783A>C	XP_011507825.1:n.189+9783A>C
XM_011509524.1:c.189+9783A>C	XP_011507826.1:n.189+9783A>C
XM_011509522.2:c.189+9783A>C	XP_011507824.1:n.189+9783A>C
XM_011509524.2:c.189+9783A>C	XP_011507826.1:n.189+9783A>C
XM_017001248.1:c.345+9783A>C	XP_016856737.1:n.345+9783A>C
XM_017001249.1:c.315+9783A>C	XP_016856738.1:n.315+9783A>C
NM_001017424.3:c.345+9783A>C	NP_001017424.1:n.345+9783A>C
NM_001017425.3:c.357+9783A>C MANE Select	NP_001017425.2:n.357+9783A>C
NM_014217.4:c.312+9783A>C	NP_055032.1:n.312+9783A>C