Canonical Allele Identifier: CA2374774572

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407366T= , CM000682.2:g.63407366T=	GRCh38
NC_000020.10:g.62038719T= , CM000682.1:g.62038719T=	GRCh37
NC_000020.9:g.61509163T=	NCBI36
NG_009004.1:g.70275A=
NG_009004.2:g.70275A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1951A=	ENSP00000516702.1:p.Met651=
ENST00000359125.7:c.1897A= MANE Select	ENSP00000352035.2:p.Met633=
ENST00000637193.1:c.1294A=	ENSP00000490734.1:p.Met432=
ENST00000637338.1:n.54A=
ENST00000344462.8:c.1804A=	ENSP00000339611.4:p.Met602=
ENST00000357249.6:c.1465A=	ENSP00000349789.3:p.Met489=
ENST00000359125.6:c.1897A=	ENSP00000352035.2:p.Met633=
ENST00000360480.7:c.1813A=	ENSP00000353668.3:p.Met605=
ENST00000370224.5:c.1921A=	ENSP00000359244.2:p.Met641=
ENST00000625514.2:c.1885A=	ENSP00000486040.1:p.Met629=
ENST00000626839.2:c.1843A=	ENSP00000486706.1:p.Met615=
ENST00000629241.2:c.1813A=	ENSP00000487142.1:p.Met605=
ENST00000629676.2:c.1679+6084A=	ENSP00000486194.1:n.1679+6084A=
NM_004518.4:c.1813A=	NP_004509.2:p.Met605=
NM_172106.1:c.1843A=	NP_742104.1:p.Met615=
NM_172107.2:c.1897A=	NP_742105.1:p.Met633=
NM_172108.3:c.1804A=	NP_742106.1:p.Met602=
XM_006723787.1:c.1939A=	XP_006723850.1:p.Met647=
XM_011528807.1:c.2005A=	XP_011527109.1:p.Met669=
XM_011528808.1:c.2002A=	XP_011527110.1:p.Met668=
XM_011528809.1:c.1975A=	XP_011527111.1:p.Met659=
XM_011528810.1:c.1951A=	XP_011527112.1:p.Met651=
XM_011528811.1:c.1921A=	XP_011527113.1:p.Met641=
XM_011528812.1:c.1894A=	XP_011527114.1:p.Met632=
XM_011528813.1:c.1879A=	XP_011527115.1:p.Met627=
XM_011528814.1:c.1486A=	XP_011527116.1:p.Met496=
NM_004518.5:c.1813A=	NP_004509.2:p.Met605=
NM_172106.2:c.1843A=	NP_742104.1:p.Met615=
NM_172107.3:c.1897A=	NP_742105.1:p.Met633=
NM_172108.4:c.1804A=	NP_742106.1:p.Met602=
XM_011528810.2:c.1951A=	XP_011527112.1:p.Met651=
XM_011528811.2:c.1921A=	XP_011527113.1:p.Met641=
XM_017027841.2:c.1948A=	XP_016883330.1:p.Met650=
XM_017027842.2:c.1885A=	XP_016883331.1:p.Met629=
XM_017027843.1:c.1882A=	XP_016883332.1:p.Met628=
XM_017027844.2:c.1840A=	XP_016883333.1:p.Met614=
XM_017027845.1:c.913A=	XP_016883334.1:p.Met305=
NM_004518.6:c.1813A=	NP_004509.2:p.Met605=
NM_172106.3:c.1843A=	NP_742104.1:p.Met615=
NM_172107.4:c.1897A= MANE Select	NP_742105.1:p.Met633=
NM_172108.5:c.1804A=	NP_742106.1:p.Met602=
NM_001382235.1:c.1951A=	NP_001369164.1:p.Met651=