Canonical Allele Identifier: CA409639511

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038704C>T (hg19) ; chr20:g.63407351C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407351C>T , CM000682.2:g.63407351C>T	GRCh38
NC_000020.10:g.62038704C>T , CM000682.1:g.62038704C>T	GRCh37
NC_000020.9:g.61509148C>T	NCBI36
NG_009004.1:g.70290G>A
NG_009004.2:g.70290G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1966G>A	ENSP00000516702.1:p.Asp656Asn
ENST00000359125.7:c.1912G>A MANE Select	ENSP00000352035.2:p.Asp638Asn
ENST00000637193.1:c.1309G>A	ENSP00000490734.1:p.Asp437Asn
ENST00000637338.1:n.69G>A
ENST00000344462.8:c.1819G>A	ENSP00000339611.4:p.Asp607Asn
ENST00000357249.6:c.1480G>A	ENSP00000349789.3:p.Asp494Asn
ENST00000359125.6:c.1912G>A	ENSP00000352035.2:p.Asp638Asn
ENST00000360480.7:c.1828G>A	ENSP00000353668.3:p.Asp610Asn
ENST00000370224.5:c.1936G>A	ENSP00000359244.2:p.Asp646Asn
ENST00000625514.2:c.1900G>A	ENSP00000486040.1:p.Asp634Asn
ENST00000626839.2:c.1858G>A	ENSP00000486706.1:p.Asp620Asn
ENST00000629241.2:c.1828G>A	ENSP00000487142.1:p.Asp610Asn
ENST00000629676.2:c.1679+6099G>A	ENSP00000486194.1:n.1679+6099G>A
NM_004518.4:c.1828G>A	NP_004509.2:p.Asp610Asn
NM_172106.1:c.1858G>A	NP_742104.1:p.Asp620Asn
NM_172107.2:c.1912G>A	NP_742105.1:p.Asp638Asn
NM_172108.3:c.1819G>A	NP_742106.1:p.Asp607Asn
XM_006723787.1:c.1954G>A	XP_006723850.1:p.Asp652Asn
XM_011528807.1:c.2020G>A	XP_011527109.1:p.Asp674Asn
XM_011528808.1:c.2017G>A	XP_011527110.1:p.Asp673Asn
XM_011528809.1:c.1990G>A	XP_011527111.1:p.Asp664Asn
XM_011528810.1:c.1966G>A	XP_011527112.1:p.Asp656Asn
XM_011528811.1:c.1936G>A	XP_011527113.1:p.Asp646Asn
XM_011528812.1:c.1909G>A	XP_011527114.1:p.Asp637Asn
XM_011528813.1:c.1894G>A	XP_011527115.1:p.Asp632Asn
XM_011528814.1:c.1501G>A	XP_011527116.1:p.Asp501Asn
NM_004518.5:c.1828G>A	NP_004509.2:p.Asp610Asn
NM_172106.2:c.1858G>A	NP_742104.1:p.Asp620Asn
NM_172107.3:c.1912G>A	NP_742105.1:p.Asp638Asn
NM_172108.4:c.1819G>A	NP_742106.1:p.Asp607Asn
XM_011528810.2:c.1966G>A	XP_011527112.1:p.Asp656Asn
XM_011528811.2:c.1936G>A	XP_011527113.1:p.Asp646Asn
XM_017027841.2:c.1963G>A	XP_016883330.1:p.Asp655Asn
XM_017027842.2:c.1900G>A	XP_016883331.1:p.Asp634Asn
XM_017027843.1:c.1897G>A	XP_016883332.1:p.Asp633Asn
XM_017027844.2:c.1855G>A	XP_016883333.1:p.Asp619Asn
XM_017027845.1:c.928G>A	XP_016883334.1:p.Asp310Asn
NM_004518.6:c.1828G>A	NP_004509.2:p.Asp610Asn
NM_172106.3:c.1858G>A	NP_742104.1:p.Asp620Asn
NM_172107.4:c.1912G>A MANE Select	NP_742105.1:p.Asp638Asn
NM_172108.5:c.1819G>A	NP_742106.1:p.Asp607Asn
NM_001382235.1:c.1966G>A	NP_001369164.1:p.Asp656Asn