Canonical Allele Identifier: CA2374774529

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407291A= , CM000682.2:g.63407291A=	GRCh38
NC_000020.10:g.62038644A= , CM000682.1:g.62038644A=	GRCh37
NC_000020.9:g.61509088A=	NCBI36
NG_009004.1:g.70350T=
NG_009004.2:g.70350T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2026T=	ENSP00000516702.1:p.Tyr676=
ENST00000359125.7:c.1972T= MANE Select	ENSP00000352035.2:p.Tyr658=
ENST00000637193.1:c.1369T=	ENSP00000490734.1:p.Tyr457=
ENST00000344462.8:c.1879T=	ENSP00000339611.4:p.Tyr627=
ENST00000357249.6:c.1540T=	ENSP00000349789.3:p.Tyr514=
ENST00000359125.6:c.1972T=	ENSP00000352035.2:p.Tyr658=
ENST00000360480.7:c.1888T=	ENSP00000353668.3:p.Tyr630=
ENST00000370224.5:c.1996T=	ENSP00000359244.2:p.Tyr666=
ENST00000625514.2:c.1960T=	ENSP00000486040.1:p.Tyr654=
ENST00000626839.2:c.1918T=	ENSP00000486706.1:p.Tyr640=
ENST00000629241.2:c.1888T=	ENSP00000487142.1:p.Tyr630=
ENST00000629676.2:c.1679+6159T=	ENSP00000486194.1:n.1679+6159T=
NM_004518.4:c.1888T=	NP_004509.2:p.Tyr630=
NM_172106.1:c.1918T=	NP_742104.1:p.Tyr640=
NM_172107.2:c.1972T=	NP_742105.1:p.Tyr658=
NM_172108.3:c.1879T=	NP_742106.1:p.Tyr627=
XM_006723787.1:c.2014T=	XP_006723850.1:p.Tyr672=
XM_011528807.1:c.2080T=	XP_011527109.1:p.Tyr694=
XM_011528808.1:c.2077T=	XP_011527110.1:p.Tyr693=
XM_011528809.1:c.2050T=	XP_011527111.1:p.Tyr684=
XM_011528810.1:c.2026T=	XP_011527112.1:p.Tyr676=
XM_011528811.1:c.1996T=	XP_011527113.1:p.Tyr666=
XM_011528812.1:c.1969T=	XP_011527114.1:p.Tyr657=
XM_011528813.1:c.1954T=	XP_011527115.1:p.Tyr652=
XM_011528814.1:c.1561T=	XP_011527116.1:p.Tyr521=
NM_004518.5:c.1888T=	NP_004509.2:p.Tyr630=
NM_172106.2:c.1918T=	NP_742104.1:p.Tyr640=
NM_172107.3:c.1972T=	NP_742105.1:p.Tyr658=
NM_172108.4:c.1879T=	NP_742106.1:p.Tyr627=
XM_011528810.2:c.2026T=	XP_011527112.1:p.Tyr676=
XM_011528811.2:c.1996T=	XP_011527113.1:p.Tyr666=
XM_017027841.2:c.2023T=	XP_016883330.1:p.Tyr675=
XM_017027842.2:c.1960T=	XP_016883331.1:p.Tyr654=
XM_017027843.1:c.1957T=	XP_016883332.1:p.Tyr653=
XM_017027844.2:c.1915T=	XP_016883333.1:p.Tyr639=
XM_017027845.1:c.988T=	XP_016883334.1:p.Tyr330=
NM_004518.6:c.1888T=	NP_004509.2:p.Tyr630=
NM_172106.3:c.1918T=	NP_742104.1:p.Tyr640=
NM_172107.4:c.1972T= MANE Select	NP_742105.1:p.Tyr658=
NM_172108.5:c.1879T=	NP_742106.1:p.Tyr627=
NM_001382235.1:c.2026T=	NP_001369164.1:p.Tyr676=