Canonical Allele Identifier: CA2374778297

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414118G= , CM000682.2:g.63414118G=	GRCh38
NC_000020.10:g.62045471G= , CM000682.1:g.62045471G=	GRCh37
NC_000020.9:g.61515915G=	NCBI36
NG_009004.1:g.63523C=
NG_009004.2:g.63523C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1547C=	ENSP00000516702.1:p.Pro516=
ENST00000359125.7:c.1601C= MANE Select	ENSP00000352035.2:p.Pro534=
ENST00000637193.1:c.998C=	ENSP00000490734.1:p.Pro333=
ENST00000344462.8:c.1508C=	ENSP00000339611.4:p.Pro503=
ENST00000357249.6:c.1169C=	ENSP00000349789.3:p.Pro390=
ENST00000359125.6:c.1601C=	ENSP00000352035.2:p.Pro534=
ENST00000360480.7:c.1517C=	ENSP00000353668.3:p.Pro506=
ENST00000370224.5:c.1517C=	ENSP00000359244.2:p.Pro506=
ENST00000625514.2:c.1481C=	ENSP00000486040.1:p.Pro494=
ENST00000626839.2:c.1547C=	ENSP00000486706.1:p.Pro516=
ENST00000627221.2:c.658C=
ENST00000629241.2:c.1517C=	ENSP00000487142.1:p.Pro506=
ENST00000629318.1:c.209C=	ENSP00000487384.1:p.Pro70=
ENST00000629676.2:c.1517C=	ENSP00000486194.1:p.Pro506=
NM_004518.4:c.1517C=	NP_004509.2:p.Pro506=
NM_172106.1:c.1547C=	NP_742104.1:p.Pro516=
NM_172107.2:c.1601C=	NP_742105.1:p.Pro534=
NM_172108.3:c.1508C=	NP_742106.1:p.Pro503=
XM_006723787.1:c.1601C=	XP_006723850.1:p.Pro534=
XM_011528807.1:c.1601C=	XP_011527109.1:p.Pro534=
XM_011528808.1:c.1598C=	XP_011527110.1:p.Pro533=
XM_011528809.1:c.1571C=	XP_011527111.1:p.Pro524=
XM_011528810.1:c.1547C=	XP_011527112.1:p.Pro516=
XM_011528811.1:c.1517C=	XP_011527113.1:p.Pro506=
XM_011528812.1:c.1598C=	XP_011527114.1:p.Pro533=
XM_011528813.1:c.1475C=	XP_011527115.1:p.Pro492=
XM_011528814.1:c.1082C=	XP_011527116.1:p.Pro361=
XM_011528815.1:c.1601C=	XP_011527117.1:p.Pro534=
NM_004518.5:c.1517C=	NP_004509.2:p.Pro506=
NM_172106.2:c.1547C=	NP_742104.1:p.Pro516=
NM_172107.3:c.1601C=	NP_742105.1:p.Pro534=
NM_172108.4:c.1508C=	NP_742106.1:p.Pro503=
XM_011528810.2:c.1547C=	XP_011527112.1:p.Pro516=
XM_011528811.2:c.1517C=	XP_011527113.1:p.Pro506=
XM_017027841.2:c.1544C=	XP_016883330.1:p.Pro515=
XM_017027842.2:c.1547C=	XP_016883331.1:p.Pro516=
XM_017027843.1:c.1478C=	XP_016883332.1:p.Pro493=
XM_017027844.2:c.1544C=	XP_016883333.1:p.Pro515=
XM_017027845.1:c.509C=	XP_016883334.1:p.Pro170=
NM_004518.6:c.1517C=	NP_004509.2:p.Pro506=
NM_172106.3:c.1547C=	NP_742104.1:p.Pro516=
NM_172107.4:c.1601C= MANE Select	NP_742105.1:p.Pro534=
NM_172108.5:c.1508C=	NP_742106.1:p.Pro503=
NM_001382235.1:c.1547C=	NP_001369164.1:p.Pro516=