Canonical Allele Identifier: CA2374778809

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63415013C= , CM000682.2:g.63415013C=	GRCh38
NC_000020.10:g.62046366C= , CM000682.1:g.62046366C=	GRCh37
NC_000020.9:g.61516810C=	NCBI36
NG_009004.1:g.62628G=
NG_009004.2:g.62628G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1361G=	ENSP00000516702.1:p.Ser454=
ENST00000359125.7:c.1415G= MANE Select	ENSP00000352035.2:p.Ser472=
ENST00000637193.1:c.812G=	ENSP00000490734.1:p.Ser271=
ENST00000344462.8:c.1325G=	ENSP00000339611.4:p.Ser442=
ENST00000357249.6:c.983G=	ENSP00000349789.3:p.Ser328=
ENST00000359125.6:c.1415G=	ENSP00000352035.2:p.Ser472=
ENST00000360480.7:c.1331G=	ENSP00000353668.3:p.Ser444=
ENST00000370224.5:c.1331G=	ENSP00000359244.2:p.Ser444=
ENST00000625514.2:c.1295G=	ENSP00000486040.1:p.Ser432=
ENST00000626839.2:c.1361G=	ENSP00000486706.1:p.Ser454=
ENST00000627221.2:c.475G=
ENST00000629241.2:c.1331G=	ENSP00000487142.1:p.Ser444=
ENST00000629318.1:c.23G=	ENSP00000487384.1:p.Ser8=
ENST00000629676.2:c.1331G=	ENSP00000486194.1:p.Ser444=
NM_004518.4:c.1331G=	NP_004509.2:p.Ser444=
NM_172106.1:c.1361G=	NP_742104.1:p.Ser454=
NM_172107.2:c.1415G=	NP_742105.1:p.Ser472=
NM_172108.3:c.1325G=	NP_742106.1:p.Ser442=
XM_006723787.1:c.1415G=	XP_006723850.1:p.Ser472=
XM_011528807.1:c.1415G=	XP_011527109.1:p.Ser472=
XM_011528808.1:c.1415G=	XP_011527110.1:p.Ser472=
XM_011528809.1:c.1385G=	XP_011527111.1:p.Ser462=
XM_011528810.1:c.1361G=	XP_011527112.1:p.Ser454=
XM_011528811.1:c.1331G=	XP_011527113.1:p.Ser444=
XM_011528812.1:c.1415G=	XP_011527114.1:p.Ser472=
XM_011528813.1:c.1289G=	XP_011527115.1:p.Ser430=
XM_011528814.1:c.896G=	XP_011527116.1:p.Ser299=
XM_011528815.1:c.1415G=	XP_011527117.1:p.Ser472=
NM_004518.5:c.1331G=	NP_004509.2:p.Ser444=
NM_172106.2:c.1361G=	NP_742104.1:p.Ser454=
NM_172107.3:c.1415G=	NP_742105.1:p.Ser472=
NM_172108.4:c.1325G=	NP_742106.1:p.Ser442=
XM_011528810.2:c.1361G=	XP_011527112.1:p.Ser454=
XM_011528811.2:c.1331G=	XP_011527113.1:p.Ser444=
XM_017027841.2:c.1361G=	XP_016883330.1:p.Ser454=
XM_017027842.2:c.1361G=	XP_016883331.1:p.Ser454=
XM_017027843.1:c.1292G=	XP_016883332.1:p.Ser431=
XM_017027844.2:c.1361G=	XP_016883333.1:p.Ser454=
XM_017027845.1:c.323G=	XP_016883334.1:p.Ser108=
NM_004518.6:c.1331G=	NP_004509.2:p.Ser444=
NM_172106.3:c.1361G=	NP_742104.1:p.Ser454=
NM_172107.4:c.1415G= MANE Select	NP_742105.1:p.Ser472=
NM_172108.5:c.1325G=	NP_742106.1:p.Ser442=
NM_001382235.1:c.1361G=	NP_001369164.1:p.Ser454=