Canonical Allele Identifier: CA341602976

Gene: KCNA2

Linked Data

• ClinVar Variation Id: 426735
• ClinVar RCV Id: RCV000488922
• dbSNP Id: rs1085307768
• MyVariant Identifiers: chr1:g.111146536A>G (hg19) ; chr1:g.110603914A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.110603914A>G , CM000663.2:g.110603914A>G	GRCh38
NC_000001.10:g.111146536A>G , CM000663.1:g.111146536A>G	GRCh37
NC_000001.9:g.110948059A>G	NCBI36
NG_027997.2:g.32561T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000316361.10:c.869T>C MANE Select	ENSP00000314520.4:p.Leu290Pro
ENST00000485317.6:c.869T>C	ENSP00000433109.1:p.Leu290Pro
ENST00000525120.2:n.361+1477T>C
ENST00000638477.2:c.107T>C	ENSP00000491354.1:p.Leu36Pro
ENST00000638532.1:c.869T>C	ENSP00000491613.1:p.Leu290Pro
ENST00000638616.2:c.869T>C	ENSP00000491977.1:p.Leu290Pro
ENST00000639048.2:c.107T>C	ENSP00000491627.1:p.Leu36Pro
ENST00000639227.1:n.637T>C
ENST00000639233.2:c.287T>C	ENSP00000492716.1:p.Leu96Pro
ENST00000640450.1:n.977T>C
ENST00000640680.1:n.459+1477T>C
ENST00000640774.2:c.107T>C	ENSP00000492008.1:p.Leu36Pro
ENST00000640956.1:c.503T>C	ENSP00000491647.1:p.Leu168Pro
ENST00000675391.1:c.869T>C	ENSP00000502642.1:p.Leu290Pro
ENST00000316361.8:c.869T>C	ENSP00000314520.4:p.Leu290Pro
ENST00000369770.7:c.869T>C	ENSP00000358785.3:p.Leu290Pro
ENST00000485317.5:c.869T>C	ENSP00000433109.1:p.Leu290Pro
ENST00000633222.1:c.869T>C	ENSP00000487785.1:p.Leu290Pro
NM_001204269.1:c.869T>C	NP_001191198.1:p.Leu290Pro
NM_004974.3:c.869T>C	NP_004965.1:p.Leu290Pro
XM_011541396.1:c.869T>C	XP_011539698.1:p.Leu290Pro
XM_011541397.1:c.869T>C	XP_011539699.1:p.Leu290Pro
XM_011541398.1:c.869T>C	XP_011539700.1:p.Leu290Pro
XM_011541399.1:c.869T>C	XP_011539701.1:p.Leu290Pro
XM_011541400.1:c.869T>C	XP_011539702.1:p.Leu290Pro
XM_011541396.2:c.869T>C	XP_011539698.1:p.Leu290Pro
XM_011541397.2:c.869T>C	XP_011539699.1:p.Leu290Pro
XM_011541398.2:c.869T>C	XP_011539700.1:p.Leu290Pro
XM_011541399.2:c.869T>C	XP_011539701.1:p.Leu290Pro
XM_011541400.2:c.869T>C	XP_011539702.1:p.Leu290Pro
XM_017001213.1:c.869T>C	XP_016856702.1:p.Leu290Pro
NM_004974.4:c.869T>C MANE Select	NP_004965.1:p.Leu290Pro
NM_001204269.2:c.869T>C	NP_001191198.1:p.Leu290Pro