Canonical Allele Identifier: CA409645472

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62045495T>A (hg19) ; chr20:g.63414142T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414142T>A , CM000682.2:g.63414142T>A	GRCh38
NC_000020.10:g.62045495T>A , CM000682.1:g.62045495T>A	GRCh37
NC_000020.9:g.61515939T>A	NCBI36
NG_009004.1:g.63499A>T
NG_009004.2:g.63499A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1523A>T	ENSP00000516702.1:p.Glu508Val
ENST00000359125.7:c.1577A>T MANE Select	ENSP00000352035.2:p.Glu526Val
ENST00000637193.1:c.974A>T	ENSP00000490734.1:p.Glu325Val
ENST00000344462.8:c.1484A>T	ENSP00000339611.4:p.Glu495Val
ENST00000357249.6:c.1145A>T	ENSP00000349789.3:p.Glu382Val
ENST00000359125.6:c.1577A>T	ENSP00000352035.2:p.Glu526Val
ENST00000360480.7:c.1493A>T	ENSP00000353668.3:p.Glu498Val
ENST00000370224.5:c.1493A>T	ENSP00000359244.2:p.Glu498Val
ENST00000625514.2:c.1457A>T	ENSP00000486040.1:p.Glu486Val
ENST00000626839.2:c.1523A>T	ENSP00000486706.1:p.Glu508Val
ENST00000627221.2:c.634A>T
ENST00000629241.2:c.1493A>T	ENSP00000487142.1:p.Glu498Val
ENST00000629318.1:c.185A>T	ENSP00000487384.1:p.Glu62Val
ENST00000629676.2:c.1493A>T	ENSP00000486194.1:p.Glu498Val
NM_004518.4:c.1493A>T	NP_004509.2:p.Glu498Val
NM_172106.1:c.1523A>T	NP_742104.1:p.Glu508Val
NM_172107.2:c.1577A>T	NP_742105.1:p.Glu526Val
NM_172108.3:c.1484A>T	NP_742106.1:p.Glu495Val
XM_006723787.1:c.1577A>T	XP_006723850.1:p.Glu526Val
XM_011528807.1:c.1577A>T	XP_011527109.1:p.Glu526Val
XM_011528808.1:c.1574A>T	XP_011527110.1:p.Glu525Val
XM_011528809.1:c.1547A>T	XP_011527111.1:p.Glu516Val
XM_011528810.1:c.1523A>T	XP_011527112.1:p.Glu508Val
XM_011528811.1:c.1493A>T	XP_011527113.1:p.Glu498Val
XM_011528812.1:c.1574A>T	XP_011527114.1:p.Glu525Val
XM_011528813.1:c.1451A>T	XP_011527115.1:p.Glu484Val
XM_011528814.1:c.1058A>T	XP_011527116.1:p.Glu353Val
XM_011528815.1:c.1577A>T	XP_011527117.1:p.Glu526Val
NM_004518.5:c.1493A>T	NP_004509.2:p.Glu498Val
NM_172106.2:c.1523A>T	NP_742104.1:p.Glu508Val
NM_172107.3:c.1577A>T	NP_742105.1:p.Glu526Val
NM_172108.4:c.1484A>T	NP_742106.1:p.Glu495Val
XM_011528810.2:c.1523A>T	XP_011527112.1:p.Glu508Val
XM_011528811.2:c.1493A>T	XP_011527113.1:p.Glu498Val
XM_017027841.2:c.1520A>T	XP_016883330.1:p.Glu507Val
XM_017027842.2:c.1523A>T	XP_016883331.1:p.Glu508Val
XM_017027843.1:c.1454A>T	XP_016883332.1:p.Glu485Val
XM_017027844.2:c.1520A>T	XP_016883333.1:p.Glu507Val
XM_017027845.1:c.485A>T	XP_016883334.1:p.Glu162Val
NM_004518.6:c.1493A>T	NP_004509.2:p.Glu498Val
NM_172106.3:c.1523A>T	NP_742104.1:p.Glu508Val
NM_172107.4:c.1577A>T MANE Select	NP_742105.1:p.Glu526Val
NM_172108.5:c.1484A>T	NP_742106.1:p.Glu495Val
NM_001382235.1:c.1523A>T	NP_001369164.1:p.Glu508Val