Canonical Allele Identifier: CA409645544

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62045505A>T (hg19) ; chr20:g.63414152A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414152A>T , CM000682.2:g.63414152A>T	GRCh38
NC_000020.10:g.62045505A>T , CM000682.1:g.62045505A>T	GRCh37
NC_000020.9:g.61515949A>T	NCBI36
NG_009004.1:g.63489T>A
NG_009004.2:g.63489T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1513T>A	ENSP00000516702.1:p.Cys505Ser
ENST00000359125.7:c.1567T>A MANE Select	ENSP00000352035.2:p.Cys523Ser
ENST00000637193.1:c.964T>A	ENSP00000490734.1:p.Cys322Ser
ENST00000344462.8:c.1474T>A	ENSP00000339611.4:p.Cys492Ser
ENST00000357249.6:c.1135T>A	ENSP00000349789.3:p.Cys379Ser
ENST00000359125.6:c.1567T>A	ENSP00000352035.2:p.Cys523Ser
ENST00000360480.7:c.1483T>A	ENSP00000353668.3:p.Cys495Ser
ENST00000370224.5:c.1483T>A	ENSP00000359244.2:p.Cys495Ser
ENST00000625514.2:c.1447T>A	ENSP00000486040.1:p.Cys483Ser
ENST00000626839.2:c.1513T>A	ENSP00000486706.1:p.Cys505Ser
ENST00000627221.2:c.624T>A
ENST00000629241.2:c.1483T>A	ENSP00000487142.1:p.Cys495Ser
ENST00000629318.1:c.175T>A	ENSP00000487384.1:p.Cys59Ser
ENST00000629676.2:c.1483T>A	ENSP00000486194.1:p.Cys495Ser
NM_004518.4:c.1483T>A	NP_004509.2:p.Cys495Ser
NM_172106.1:c.1513T>A	NP_742104.1:p.Cys505Ser
NM_172107.2:c.1567T>A	NP_742105.1:p.Cys523Ser
NM_172108.3:c.1474T>A	NP_742106.1:p.Cys492Ser
XM_006723787.1:c.1567T>A	XP_006723850.1:p.Cys523Ser
XM_011528807.1:c.1567T>A	XP_011527109.1:p.Cys523Ser
XM_011528808.1:c.1564T>A	XP_011527110.1:p.Cys522Ser
XM_011528809.1:c.1537T>A	XP_011527111.1:p.Cys513Ser
XM_011528810.1:c.1513T>A	XP_011527112.1:p.Cys505Ser
XM_011528811.1:c.1483T>A	XP_011527113.1:p.Cys495Ser
XM_011528812.1:c.1564T>A	XP_011527114.1:p.Cys522Ser
XM_011528813.1:c.1441T>A	XP_011527115.1:p.Cys481Ser
XM_011528814.1:c.1048T>A	XP_011527116.1:p.Cys350Ser
XM_011528815.1:c.1567T>A	XP_011527117.1:p.Cys523Ser
NM_004518.5:c.1483T>A	NP_004509.2:p.Cys495Ser
NM_172106.2:c.1513T>A	NP_742104.1:p.Cys505Ser
NM_172107.3:c.1567T>A	NP_742105.1:p.Cys523Ser
NM_172108.4:c.1474T>A	NP_742106.1:p.Cys492Ser
XM_011528810.2:c.1513T>A	XP_011527112.1:p.Cys505Ser
XM_011528811.2:c.1483T>A	XP_011527113.1:p.Cys495Ser
XM_017027841.2:c.1510T>A	XP_016883330.1:p.Cys504Ser
XM_017027842.2:c.1513T>A	XP_016883331.1:p.Cys505Ser
XM_017027843.1:c.1444T>A	XP_016883332.1:p.Cys482Ser
XM_017027844.2:c.1510T>A	XP_016883333.1:p.Cys504Ser
XM_017027845.1:c.475T>A	XP_016883334.1:p.Cys159Ser
NM_004518.6:c.1483T>A	NP_004509.2:p.Cys495Ser
NM_172106.3:c.1513T>A	NP_742104.1:p.Cys505Ser
NM_172107.4:c.1567T>A MANE Select	NP_742105.1:p.Cys523Ser
NM_172108.5:c.1474T>A	NP_742106.1:p.Cys492Ser
NM_001382235.1:c.1513T>A	NP_001369164.1:p.Cys505Ser