Canonical Allele Identifier: CA731354713

Gene: KCNK2

Linked Data

• dbSNP Id: rs1449702369
• MyVariant Identifiers: chr1:g.215362150T>C (hg19) ; chr1:g.215188807T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215188807T>C , CM000663.2:g.215188807T>C	GRCh38
NC_000001.10:g.215362150T>C , CM000663.1:g.215362150T>C	GRCh37
NC_000001.9:g.213428773T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000444842.7:c.824-6146T>C MANE Select	ENSP00000394033.2:n.824-6146T>C
ENST00000391894.6:c.779-6146T>C	ENSP00000375764.2:n.779-6146T>C
ENST00000391895.6:c.812-6146T>C	ENSP00000375765.2:n.812-6146T>C
ENST00000444842.6:c.824-6146T>C	ENSP00000394033.2:n.824-6146T>C
ENST00000467031.5:c.625-6146T>C	ENSP00000420203.1:n.625-6146T>C
ENST00000470177.5:c.*235-6146T>C	ENSP00000419633.1:n.*235-6146T>C
ENST00000474771.5:c.592-6146T>C	ENSP00000420499.1:n.592-6146T>C
ENST00000486921.5:c.*235-6146T>C	ENSP00000418706.1:n.*235-6146T>C
NM_001017424.2:c.812-6146T>C	NP_001017424.1:n.812-6146T>C
NM_001017425.2:c.824-6146T>C	NP_001017425.2:n.824-6146T>C
NM_014217.3:c.779-6146T>C	NP_055032.1:n.779-6146T>C
XM_011509521.1:c.782-6146T>C	XP_011507823.1:n.782-6146T>C
XM_011509522.1:c.656-6146T>C	XP_011507824.1:n.656-6146T>C
XM_011509523.1:c.656-6146T>C	XP_011507825.1:n.656-6146T>C
XM_011509524.1:c.656-6146T>C	XP_011507826.1:n.656-6146T>C
XR_922594.1:n.182+1794A>G
XM_011509522.2:c.656-6146T>C	XP_011507824.1:n.656-6146T>C
XM_011509524.2:c.656-6146T>C	XP_011507826.1:n.656-6146T>C
XM_017001248.1:c.812-6146T>C	XP_016856737.1:n.812-6146T>C
XM_017001249.1:c.782-6146T>C	XP_016856738.1:n.782-6146T>C
NM_001017424.3:c.812-6146T>C	NP_001017424.1:n.812-6146T>C
NM_001017425.3:c.824-6146T>C MANE Select	NP_001017425.2:n.824-6146T>C
NM_014217.4:c.779-6146T>C	NP_055032.1:n.779-6146T>C