Canonical Allele Identifier: CA2374774473

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407184G= , CM000682.2:g.63407184G=	GRCh38
NC_000020.10:g.62038537G= , CM000682.1:g.62038537G=	GRCh37
NC_000020.9:g.61508981G=	NCBI36
NG_009004.1:g.70457C=
NG_009004.2:g.70457C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2133C=	ENSP00000516702.1:p.Ser711=
ENST00000359125.7:c.2079C= MANE Select	ENSP00000352035.2:p.Ser693=
ENST00000637193.1:c.1476C=	ENSP00000490734.1:p.Ser492=
ENST00000344462.8:c.1986C=	ENSP00000339611.4:p.Ser662=
ENST00000357249.6:c.1647C=	ENSP00000349789.3:p.Ser549=
ENST00000359125.6:c.2079C=	ENSP00000352035.2:p.Ser693=
ENST00000360480.7:c.1995C=	ENSP00000353668.3:p.Ser665=
ENST00000370224.5:c.2103C=	ENSP00000359244.2:p.Ser701=
ENST00000625514.2:c.2067C=	ENSP00000486040.1:p.Ser689=
ENST00000626839.2:c.2025C=	ENSP00000486706.1:p.Ser675=
ENST00000629241.2:c.1995C=	ENSP00000487142.1:p.Ser665=
ENST00000629676.2:c.1679+6266C=	ENSP00000486194.1:n.1679+6266C=
NM_004518.4:c.1995C=	NP_004509.2:p.Ser665=
NM_172106.1:c.2025C=	NP_742104.1:p.Ser675=
NM_172107.2:c.2079C=	NP_742105.1:p.Ser693=
NM_172108.3:c.1986C=	NP_742106.1:p.Ser662=
XM_006723787.1:c.2121C=	XP_006723850.1:p.Ser707=
XM_011528807.1:c.2187C=	XP_011527109.1:p.Ser729=
XM_011528808.1:c.2184C=	XP_011527110.1:p.Ser728=
XM_011528809.1:c.2157C=	XP_011527111.1:p.Ser719=
XM_011528810.1:c.2133C=	XP_011527112.1:p.Ser711=
XM_011528811.1:c.2103C=	XP_011527113.1:p.Ser701=
XM_011528812.1:c.2076C=	XP_011527114.1:p.Ser692=
XM_011528813.1:c.2061C=	XP_011527115.1:p.Ser687=
XM_011528814.1:c.1668C=	XP_011527116.1:p.Ser556=
NM_004518.5:c.1995C=	NP_004509.2:p.Ser665=
NM_172106.2:c.2025C=	NP_742104.1:p.Ser675=
NM_172107.3:c.2079C=	NP_742105.1:p.Ser693=
NM_172108.4:c.1986C=	NP_742106.1:p.Ser662=
XM_011528810.2:c.2133C=	XP_011527112.1:p.Ser711=
XM_011528811.2:c.2103C=	XP_011527113.1:p.Ser701=
XM_017027841.2:c.2130C=	XP_016883330.1:p.Ser710=
XM_017027842.2:c.2067C=	XP_016883331.1:p.Ser689=
XM_017027843.1:c.2064C=	XP_016883332.1:p.Ser688=
XM_017027844.2:c.2022C=	XP_016883333.1:p.Ser674=
XM_017027845.1:c.1095C=	XP_016883334.1:p.Ser365=
NM_004518.6:c.1995C=	NP_004509.2:p.Ser665=
NM_172106.3:c.2025C=	NP_742104.1:p.Ser675=
NM_172107.4:c.2079C= MANE Select	NP_742105.1:p.Ser693=
NM_172108.5:c.1986C=	NP_742106.1:p.Ser662=
NM_001382235.1:c.2133C=	NP_001369164.1:p.Ser711=