Canonical Allele Identifier: CA409645549

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63414152-A-G
• MyVariant Identifiers: chr20:g.62045505A>G (hg19) ; chr20:g.63414152A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1513T>C	ENSP00000516702.1:p.Cys505Arg
ENST00000359125.7:c.1567T>C MANE Select	ENSP00000352035.2:p.Cys523Arg
ENST00000637193.1:c.964T>C	ENSP00000490734.1:p.Cys322Arg
ENST00000344462.8:c.1474T>C	ENSP00000339611.4:p.Cys492Arg
ENST00000357249.6:c.1135T>C	ENSP00000349789.3:p.Cys379Arg
ENST00000359125.6:c.1567T>C	ENSP00000352035.2:p.Cys523Arg
ENST00000360480.7:c.1483T>C	ENSP00000353668.3:p.Cys495Arg
ENST00000370224.5:c.1483T>C	ENSP00000359244.2:p.Cys495Arg
ENST00000625514.2:c.1447T>C	ENSP00000486040.1:p.Cys483Arg
ENST00000626839.2:c.1513T>C	ENSP00000486706.1:p.Cys505Arg
ENST00000627221.2:c.624T>C
ENST00000629241.2:c.1483T>C	ENSP00000487142.1:p.Cys495Arg
ENST00000629318.1:c.175T>C	ENSP00000487384.1:p.Cys59Arg
ENST00000629676.2:c.1483T>C	ENSP00000486194.1:p.Cys495Arg
NM_004518.4:c.1483T>C	NP_004509.2:p.Cys495Arg
NM_172106.1:c.1513T>C	NP_742104.1:p.Cys505Arg
NM_172107.2:c.1567T>C	NP_742105.1:p.Cys523Arg
NM_172108.3:c.1474T>C	NP_742106.1:p.Cys492Arg
XM_006723787.1:c.1567T>C	XP_006723850.1:p.Cys523Arg
XM_011528807.1:c.1567T>C	XP_011527109.1:p.Cys523Arg
XM_011528808.1:c.1564T>C	XP_011527110.1:p.Cys522Arg
XM_011528809.1:c.1537T>C	XP_011527111.1:p.Cys513Arg
XM_011528810.1:c.1513T>C	XP_011527112.1:p.Cys505Arg
XM_011528811.1:c.1483T>C	XP_011527113.1:p.Cys495Arg
XM_011528812.1:c.1564T>C	XP_011527114.1:p.Cys522Arg
XM_011528813.1:c.1441T>C	XP_011527115.1:p.Cys481Arg
XM_011528814.1:c.1048T>C	XP_011527116.1:p.Cys350Arg
XM_011528815.1:c.1567T>C	XP_011527117.1:p.Cys523Arg
NM_004518.5:c.1483T>C	NP_004509.2:p.Cys495Arg
NM_172106.2:c.1513T>C	NP_742104.1:p.Cys505Arg
NM_172107.3:c.1567T>C	NP_742105.1:p.Cys523Arg
NM_172108.4:c.1474T>C	NP_742106.1:p.Cys492Arg
XM_011528810.2:c.1513T>C	XP_011527112.1:p.Cys505Arg
XM_011528811.2:c.1483T>C	XP_011527113.1:p.Cys495Arg
XM_017027841.2:c.1510T>C	XP_016883330.1:p.Cys504Arg
XM_017027842.2:c.1513T>C	XP_016883331.1:p.Cys505Arg
XM_017027843.1:c.1444T>C	XP_016883332.1:p.Cys482Arg
XM_017027844.2:c.1510T>C	XP_016883333.1:p.Cys504Arg
XM_017027845.1:c.475T>C	XP_016883334.1:p.Cys159Arg
NM_004518.6:c.1483T>C	NP_004509.2:p.Cys495Arg
NM_172106.3:c.1513T>C	NP_742104.1:p.Cys505Arg
NM_172107.4:c.1567T>C MANE Select	NP_742105.1:p.Cys523Arg
NM_172108.5:c.1474T>C	NP_742106.1:p.Cys492Arg
NM_001382235.1:c.1513T>C	NP_001369164.1:p.Cys505Arg