Canonical Allele Identifier: CA317422479

Gene: KCNQ2

Linked Data

• dbSNP Id: rs760711257
• MyVariant Identifiers: chr20:g.62038615C>G (hg19) ; chr20:g.63407262C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407262C>G , CM000682.2:g.63407262C>G	GRCh38
NC_000020.10:g.62038615C>G , CM000682.1:g.62038615C>G	GRCh37
NC_000020.9:g.61509059C>G	NCBI36
NG_009004.1:g.70379G>C
NG_009004.2:g.70379G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2055G>C	ENSP00000516702.1:p.Ala685=
ENST00000359125.7:c.2001G>C MANE Select	ENSP00000352035.2:p.Ala667=
ENST00000637193.1:c.1398G>C	ENSP00000490734.1:p.Ala466=
ENST00000344462.8:c.1908G>C	ENSP00000339611.4:p.Ala636=
ENST00000357249.6:c.1569G>C	ENSP00000349789.3:p.Ala523=
ENST00000359125.6:c.2001G>C	ENSP00000352035.2:p.Ala667=
ENST00000360480.7:c.1917G>C	ENSP00000353668.3:p.Ala639=
ENST00000370224.5:c.2025G>C	ENSP00000359244.2:p.Ala675=
ENST00000625514.2:c.1989G>C	ENSP00000486040.1:p.Ala663=
ENST00000626839.2:c.1947G>C	ENSP00000486706.1:p.Ala649=
ENST00000629241.2:c.1917G>C	ENSP00000487142.1:p.Ala639=
ENST00000629676.2:c.1679+6188G>C	ENSP00000486194.1:n.1679+6188G>C
NM_004518.4:c.1917G>C	NP_004509.2:p.Ala639=
NM_172106.1:c.1947G>C	NP_742104.1:p.Ala649=
NM_172107.2:c.2001G>C	NP_742105.1:p.Ala667=
NM_172108.3:c.1908G>C	NP_742106.1:p.Ala636=
XM_006723787.1:c.2043G>C	XP_006723850.1:p.Ala681=
XM_011528807.1:c.2109G>C	XP_011527109.1:p.Ala703=
XM_011528808.1:c.2106G>C	XP_011527110.1:p.Ala702=
XM_011528809.1:c.2079G>C	XP_011527111.1:p.Ala693=
XM_011528810.1:c.2055G>C	XP_011527112.1:p.Ala685=
XM_011528811.1:c.2025G>C	XP_011527113.1:p.Ala675=
XM_011528812.1:c.1998G>C	XP_011527114.1:p.Ala666=
XM_011528813.1:c.1983G>C	XP_011527115.1:p.Ala661=
XM_011528814.1:c.1590G>C	XP_011527116.1:p.Ala530=
NM_004518.5:c.1917G>C	NP_004509.2:p.Ala639=
NM_172106.2:c.1947G>C	NP_742104.1:p.Ala649=
NM_172107.3:c.2001G>C	NP_742105.1:p.Ala667=
NM_172108.4:c.1908G>C	NP_742106.1:p.Ala636=
XM_011528810.2:c.2055G>C	XP_011527112.1:p.Ala685=
XM_011528811.2:c.2025G>C	XP_011527113.1:p.Ala675=
XM_017027841.2:c.2052G>C	XP_016883330.1:p.Ala684=
XM_017027842.2:c.1989G>C	XP_016883331.1:p.Ala663=
XM_017027843.1:c.1986G>C	XP_016883332.1:p.Ala662=
XM_017027844.2:c.1944G>C	XP_016883333.1:p.Ala648=
XM_017027845.1:c.1017G>C	XP_016883334.1:p.Ala339=
NM_004518.6:c.1917G>C	NP_004509.2:p.Ala639=
NM_172106.3:c.1947G>C	NP_742104.1:p.Ala649=
NM_172107.4:c.2001G>C MANE Select	NP_742105.1:p.Ala667=
NM_172108.5:c.1908G>C	NP_742106.1:p.Ala636=
NM_001382235.1:c.2055G>C	NP_001369164.1:p.Ala685=