Canonical Allele Identifier: CA409639332

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038655T>G (hg19) ; chr20:g.63407302T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407302T>G , CM000682.2:g.63407302T>G	GRCh38
NC_000020.10:g.62038655T>G , CM000682.1:g.62038655T>G	GRCh37
NC_000020.9:g.61509099T>G	NCBI36
NG_009004.1:g.70339A>C
NG_009004.2:g.70339A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2015A>C	ENSP00000516702.1:p.Glu672Ala
ENST00000359125.7:c.1961A>C MANE Select	ENSP00000352035.2:p.Glu654Ala
ENST00000637193.1:c.1358A>C	ENSP00000490734.1:p.Glu453Ala
ENST00000344462.8:c.1868A>C	ENSP00000339611.4:p.Glu623Ala
ENST00000357249.6:c.1529A>C	ENSP00000349789.3:p.Glu510Ala
ENST00000359125.6:c.1961A>C	ENSP00000352035.2:p.Glu654Ala
ENST00000360480.7:c.1877A>C	ENSP00000353668.3:p.Glu626Ala
ENST00000370224.5:c.1985A>C	ENSP00000359244.2:p.Glu662Ala
ENST00000625514.2:c.1949A>C	ENSP00000486040.1:p.Glu650Ala
ENST00000626839.2:c.1907A>C	ENSP00000486706.1:p.Glu636Ala
ENST00000629241.2:c.1877A>C	ENSP00000487142.1:p.Glu626Ala
ENST00000629676.2:c.1679+6148A>C	ENSP00000486194.1:n.1679+6148A>C
NM_004518.4:c.1877A>C	NP_004509.2:p.Glu626Ala
NM_172106.1:c.1907A>C	NP_742104.1:p.Glu636Ala
NM_172107.2:c.1961A>C	NP_742105.1:p.Glu654Ala
NM_172108.3:c.1868A>C	NP_742106.1:p.Glu623Ala
XM_006723787.1:c.2003A>C	XP_006723850.1:p.Glu668Ala
XM_011528807.1:c.2069A>C	XP_011527109.1:p.Glu690Ala
XM_011528808.1:c.2066A>C	XP_011527110.1:p.Glu689Ala
XM_011528809.1:c.2039A>C	XP_011527111.1:p.Glu680Ala
XM_011528810.1:c.2015A>C	XP_011527112.1:p.Glu672Ala
XM_011528811.1:c.1985A>C	XP_011527113.1:p.Glu662Ala
XM_011528812.1:c.1958A>C	XP_011527114.1:p.Glu653Ala
XM_011528813.1:c.1943A>C	XP_011527115.1:p.Glu648Ala
XM_011528814.1:c.1550A>C	XP_011527116.1:p.Glu517Ala
NM_004518.5:c.1877A>C	NP_004509.2:p.Glu626Ala
NM_172106.2:c.1907A>C	NP_742104.1:p.Glu636Ala
NM_172107.3:c.1961A>C	NP_742105.1:p.Glu654Ala
NM_172108.4:c.1868A>C	NP_742106.1:p.Glu623Ala
XM_011528810.2:c.2015A>C	XP_011527112.1:p.Glu672Ala
XM_011528811.2:c.1985A>C	XP_011527113.1:p.Glu662Ala
XM_017027841.2:c.2012A>C	XP_016883330.1:p.Glu671Ala
XM_017027842.2:c.1949A>C	XP_016883331.1:p.Glu650Ala
XM_017027843.1:c.1946A>C	XP_016883332.1:p.Glu649Ala
XM_017027844.2:c.1904A>C	XP_016883333.1:p.Glu635Ala
XM_017027845.1:c.977A>C	XP_016883334.1:p.Glu326Ala
NM_004518.6:c.1877A>C	NP_004509.2:p.Glu626Ala
NM_172106.3:c.1907A>C	NP_742104.1:p.Glu636Ala
NM_172107.4:c.1961A>C MANE Select	NP_742105.1:p.Glu654Ala
NM_172108.5:c.1868A>C	NP_742106.1:p.Glu623Ala
NM_001382235.1:c.2015A>C	NP_001369164.1:p.Glu672Ala