Canonical Allele Identifier: CA10575700

Gene: KCNA2

Linked Data

• ClinVar Variation Id: 190325
• ClinVar RCV Id: RCV000170511 ; RCV000407449 ; RCV002517634
• dbSNP Id: rs876657389
• COSMIC: COSM3862174
• MyVariant Identifiers: chr1:g.111146191G>A (hg19) ; chr1:g.110603569G>A (hg38)
• PubMed: PMID:25751627

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.110603569G>A , CM000663.2:g.110603569G>A	GRCh38
NC_000001.10:g.111146191G>A , CM000663.1:g.111146191G>A	GRCh37
NC_000001.9:g.110947714G>A	NCBI36
NG_027997.2:g.32906C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000316361.10:c.1214C>T MANE Select	ENSP00000314520.4:p.Pro405Leu
ENST00000485317.6:c.1214C>T	ENSP00000433109.1:p.Pro405Leu
ENST00000525120.2:n.361+1822C>T
ENST00000638477.2:c.128+324C>T	ENSP00000491354.1:n.128+324C>T
ENST00000638532.1:c.1214C>T	ENSP00000491613.1:p.Pro405Leu
ENST00000638616.2:c.1214C>T	ENSP00000491977.1:p.Pro405Leu
ENST00000639048.2:c.452C>T	ENSP00000491627.1:p.Pro151Leu
ENST00000639227.1:n.658+324C>T
ENST00000639233.2:c.632C>T	ENSP00000492716.1:p.Pro211Leu
ENST00000640450.1:n.998+324C>T
ENST00000640680.1:n.459+1822C>T
ENST00000640774.2:c.132+320C>T	ENSP00000492008.1:n.132+320C>T
ENST00000640956.1:c.848C>T	ENSP00000491647.1:p.Pro283Leu
ENST00000675391.1:c.1214C>T	ENSP00000502642.1:p.Pro405Leu
ENST00000316361.8:c.1214C>T	ENSP00000314520.4:p.Pro405Leu
ENST00000369770.7:c.894+320C>T	ENSP00000358785.3:n.894+320C>T
ENST00000485317.5:c.1214C>T	ENSP00000433109.1:p.Pro405Leu
ENST00000633222.1:c.1214C>T	ENSP00000487785.1:p.Pro405Leu
NM_001204269.1:c.894+320C>T	NP_001191198.1:n.894+320C>T
NM_004974.3:c.1214C>T	NP_004965.1:p.Pro405Leu
XM_011541396.1:c.1214C>T	XP_011539698.1:p.Pro405Leu
XM_011541397.1:c.1214C>T	XP_011539699.1:p.Pro405Leu
XM_011541398.1:c.1214C>T	XP_011539700.1:p.Pro405Leu
XM_011541399.1:c.1214C>T	XP_011539701.1:p.Pro405Leu
XM_011541400.1:c.1214C>T	XP_011539702.1:p.Pro405Leu
XM_011541396.2:c.1214C>T	XP_011539698.1:p.Pro405Leu
XM_011541397.2:c.1214C>T	XP_011539699.1:p.Pro405Leu
XM_011541398.2:c.1214C>T	XP_011539700.1:p.Pro405Leu
XM_011541399.2:c.1214C>T	XP_011539701.1:p.Pro405Leu
XM_011541400.2:c.1214C>T	XP_011539702.1:p.Pro405Leu
XM_017001213.1:c.1214C>T	XP_016856702.1:p.Pro405Leu
NM_004974.4:c.1214C>T MANE Select	NP_004965.1:p.Pro405Leu
NM_001204269.2:c.894+320C>T	NP_001191198.1:n.894+320C>T