Canonical Allele Identifier: CA199675

Gene: KCNA2

Linked Data

• ClinVar Variation Id: 190328
• ClinVar RCV Id: RCV000170514 ; RCV000264400 ; RCV000622743 ; RCV001252020 ; RCV001374910
• dbSNP Id: rs786205232
• gnomAD v4: 1-110603893-C-T
• MyVariant Identifiers: chr1:g.111146515C>T (hg19) ; chr1:g.110603893C>T (hg38)
• PubMed: PMID:1377421 ; PMID:1706481 ; PMID:8046438 ; PMID:8158277 ; PMID:8663992 ; PMID:8663993 ; PMID:9525859 ; PMID:11331357 ; PMID:12127166 ; PMID:12214225 ; PMID:14765197 ; PMID:15694325 ; PMID:16002579 ; PMID:16002581 ; PMID:16075038 ; PMID:16704338 ; PMID:17634333 ; PMID:20696761 ; PMID:21044565 ; PMID:25477152 ; PMID:25751627 ; PMID:26648591 ; PMID:27062609 ; PMID:27117551 ; PMID:28019717 ; PMID:28032718

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.110603893C>T , CM000663.2:g.110603893C>T	GRCh38
NC_000001.10:g.111146515C>T , CM000663.1:g.111146515C>T	GRCh37
NC_000001.9:g.110948038C>T	NCBI36
NG_027997.2:g.32582G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316361.10:c.890G>A MANE Select	ENSP00000314520.4:p.Arg297Gln
ENST00000485317.6:c.890G>A	ENSP00000433109.1:p.Arg297Gln
ENST00000525120.2:n.361+1498G>A
ENST00000638477.2:c.128G>A	ENSP00000491354.1:p.Arg43Gln
ENST00000638532.1:c.890G>A	ENSP00000491613.1:p.Arg297Gln
ENST00000638616.2:c.890G>A	ENSP00000491977.1:p.Arg297Gln
ENST00000639048.2:c.128G>A	ENSP00000491627.1:p.Arg43Gln
ENST00000639227.1:n.658G>A
ENST00000639233.2:c.308G>A	ENSP00000492716.1:p.Arg103Gln
ENST00000640450.1:n.998G>A
ENST00000640680.1:n.459+1498G>A
ENST00000640774.2:c.128G>A	ENSP00000492008.1:p.Arg43Gln
ENST00000640956.1:c.524G>A	ENSP00000491647.1:p.Arg175Gln
ENST00000675391.1:c.890G>A	ENSP00000502642.1:p.Arg297Gln
ENST00000316361.8:c.890G>A	ENSP00000314520.4:p.Arg297Gln
ENST00000369770.7:c.890G>A	ENSP00000358785.3:p.Arg297Gln
ENST00000485317.5:c.890G>A	ENSP00000433109.1:p.Arg297Gln
ENST00000633222.1:c.890G>A	ENSP00000487785.1:p.Arg297Gln
NM_001204269.1:c.890G>A	NP_001191198.1:p.Arg297Gln
NM_004974.3:c.890G>A	NP_004965.1:p.Arg297Gln
XM_011541396.1:c.890G>A	XP_011539698.1:p.Arg297Gln
XM_011541397.1:c.890G>A	XP_011539699.1:p.Arg297Gln
XM_011541398.1:c.890G>A	XP_011539700.1:p.Arg297Gln
XM_011541399.1:c.890G>A	XP_011539701.1:p.Arg297Gln
XM_011541400.1:c.890G>A	XP_011539702.1:p.Arg297Gln
XM_011541396.2:c.890G>A	XP_011539698.1:p.Arg297Gln
XM_011541397.2:c.890G>A	XP_011539699.1:p.Arg297Gln
XM_011541398.2:c.890G>A	XP_011539700.1:p.Arg297Gln
XM_011541399.2:c.890G>A	XP_011539701.1:p.Arg297Gln
XM_011541400.2:c.890G>A	XP_011539702.1:p.Arg297Gln
XM_017001213.1:c.890G>A	XP_016856702.1:p.Arg297Gln
NM_004974.4:c.890G>A MANE Select	NP_004965.1:p.Arg297Gln
NM_001204269.2:c.890G>A	NP_001191198.1:p.Arg297Gln