Canonical Allele Identifier: CA511203888

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 723560
• ClinVar RCV Id: RCV003588683
• dbSNP Id: rs1601569482
• MyVariant Identifiers: chr20:g.62045479G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414126G>A , CM000682.2:g.63414126G>A	GRCh38
NC_000020.10:g.62045479G>A , CM000682.1:g.62045479G>A	GRCh37
NC_000020.9:g.61515923G>A	NCBI36
NG_009004.1:g.63515C>T
NG_009004.2:g.63515C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1539C>T	ENSP00000516702.1:p.Asp513=
ENST00000359125.7:c.1593C>T MANE Select	ENSP00000352035.2:p.Asp531=
ENST00000637193.1:c.990C>T	ENSP00000490734.1:p.Asp330=
ENST00000344462.8:c.1500C>T	ENSP00000339611.4:p.Asp500=
ENST00000357249.6:c.1161C>T	ENSP00000349789.3:p.Asp387=
ENST00000359125.6:c.1593C>T	ENSP00000352035.2:p.Asp531=
ENST00000360480.7:c.1509C>T	ENSP00000353668.3:p.Asp503=
ENST00000370224.5:c.1509C>T	ENSP00000359244.2:p.Asp503=
ENST00000625514.2:c.1473C>T	ENSP00000486040.1:p.Asp491=
ENST00000626839.2:c.1539C>T	ENSP00000486706.1:p.Asp513=
ENST00000627221.2:c.650C>T
ENST00000629241.2:c.1509C>T	ENSP00000487142.1:p.Asp503=
ENST00000629318.1:c.201C>T	ENSP00000487384.1:p.Asp67=
ENST00000629676.2:c.1509C>T	ENSP00000486194.1:p.Asp503=
NM_004518.4:c.1509C>T	NP_004509.2:p.Asp503=
NM_172106.1:c.1539C>T	NP_742104.1:p.Asp513=
NM_172107.2:c.1593C>T	NP_742105.1:p.Asp531=
NM_172108.3:c.1500C>T	NP_742106.1:p.Asp500=
XM_006723787.1:c.1593C>T	XP_006723850.1:p.Asp531=
XM_011528807.1:c.1593C>T	XP_011527109.1:p.Asp531=
XM_011528808.1:c.1590C>T	XP_011527110.1:p.Asp530=
XM_011528809.1:c.1563C>T	XP_011527111.1:p.Asp521=
XM_011528810.1:c.1539C>T	XP_011527112.1:p.Asp513=
XM_011528811.1:c.1509C>T	XP_011527113.1:p.Asp503=
XM_011528812.1:c.1590C>T	XP_011527114.1:p.Asp530=
XM_011528813.1:c.1467C>T	XP_011527115.1:p.Asp489=
XM_011528814.1:c.1074C>T	XP_011527116.1:p.Asp358=
XM_011528815.1:c.1593C>T	XP_011527117.1:p.Asp531=
NM_004518.5:c.1509C>T	NP_004509.2:p.Asp503=
NM_172106.2:c.1539C>T	NP_742104.1:p.Asp513=
NM_172107.3:c.1593C>T	NP_742105.1:p.Asp531=
NM_172108.4:c.1500C>T	NP_742106.1:p.Asp500=
XM_011528810.2:c.1539C>T	XP_011527112.1:p.Asp513=
XM_011528811.2:c.1509C>T	XP_011527113.1:p.Asp503=
XM_017027841.2:c.1536C>T	XP_016883330.1:p.Asp512=
XM_017027842.2:c.1539C>T	XP_016883331.1:p.Asp513=
XM_017027843.1:c.1470C>T	XP_016883332.1:p.Asp490=
XM_017027844.2:c.1536C>T	XP_016883333.1:p.Asp512=
XM_017027845.1:c.501C>T	XP_016883334.1:p.Asp167=
NM_004518.6:c.1509C>T	NP_004509.2:p.Asp503=
NM_172106.3:c.1539C>T	NP_742104.1:p.Asp513=
NM_172107.4:c.1593C>T MANE Select	NP_742105.1:p.Asp531=
NM_172108.5:c.1500C>T	NP_742106.1:p.Asp500=
NM_001382235.1:c.1539C>T	NP_001369164.1:p.Asp513=