Canonical Allele Identifier: CA409637282

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038220T>G (hg19) ; chr20:g.63406867T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406867T>G , CM000682.2:g.63406867T>G	GRCh38
NC_000020.10:g.62038220T>G , CM000682.1:g.62038220T>G	GRCh37
NC_000020.9:g.61508664T>G	NCBI36
NG_009004.1:g.70774A>C
NG_009004.2:g.70774A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2450A>C	ENSP00000516702.1:p.Glu817Ala
ENST00000359125.7:c.2396A>C MANE Select	ENSP00000352035.2:p.Glu799Ala
ENST00000637193.1:c.1793A>C	ENSP00000490734.1:p.Glu598Ala
ENST00000344462.8:c.2303A>C	ENSP00000339611.4:p.Glu768Ala
ENST00000357249.6:c.1964A>C	ENSP00000349789.3:p.Glu655Ala
ENST00000359125.6:c.2396A>C	ENSP00000352035.2:p.Glu799Ala
ENST00000360480.7:c.2312A>C	ENSP00000353668.3:p.Glu771Ala
ENST00000370224.5:c.2241+179A>C	ENSP00000359244.2:n.2241+179A>C
ENST00000625514.2:c.2205+179A>C	ENSP00000486040.1:n.2205+179A>C
ENST00000626839.2:c.2342A>C	ENSP00000486706.1:p.Glu781Ala
ENST00000629241.2:c.2133+179A>C	ENSP00000487142.1:n.2133+179A>C
ENST00000629676.2:c.1680-6024A>C	ENSP00000486194.1:n.1680-6024A>C
NM_004518.4:c.2312A>C	NP_004509.2:p.Glu771Ala
NM_172106.1:c.2342A>C	NP_742104.1:p.Glu781Ala
NM_172107.2:c.2396A>C	NP_742105.1:p.Glu799Ala
NM_172108.3:c.2303A>C	NP_742106.1:p.Glu768Ala
XM_006723787.1:c.2438A>C	XP_006723850.1:p.Glu813Ala
XM_011528807.1:c.2504A>C	XP_011527109.1:p.Glu835Ala
XM_011528808.1:c.2501A>C	XP_011527110.1:p.Glu834Ala
XM_011528809.1:c.2474A>C	XP_011527111.1:p.Glu825Ala
XM_011528810.1:c.2450A>C	XP_011527112.1:p.Glu817Ala
XM_011528811.1:c.2420A>C	XP_011527113.1:p.Glu807Ala
XM_011528812.1:c.2393A>C	XP_011527114.1:p.Glu798Ala
XM_011528813.1:c.2378A>C	XP_011527115.1:p.Glu793Ala
XM_011528814.1:c.1985A>C	XP_011527116.1:p.Glu662Ala
NM_004518.5:c.2312A>C	NP_004509.2:p.Glu771Ala
NM_172106.2:c.2342A>C	NP_742104.1:p.Glu781Ala
NM_172107.3:c.2396A>C	NP_742105.1:p.Glu799Ala
NM_172108.4:c.2303A>C	NP_742106.1:p.Glu768Ala
XM_011528810.2:c.2450A>C	XP_011527112.1:p.Glu817Ala
XM_011528811.2:c.2420A>C	XP_011527113.1:p.Glu807Ala
XM_017027841.2:c.2447A>C	XP_016883330.1:p.Glu816Ala
XM_017027842.2:c.2384A>C	XP_016883331.1:p.Glu795Ala
XM_017027843.1:c.2381A>C	XP_016883332.1:p.Glu794Ala
XM_017027844.2:c.2339A>C	XP_016883333.1:p.Glu780Ala
XM_017027845.1:c.1412A>C	XP_016883334.1:p.Glu471Ala
NM_004518.6:c.2312A>C	NP_004509.2:p.Glu771Ala
NM_172106.3:c.2342A>C	NP_742104.1:p.Glu781Ala
NM_172107.4:c.2396A>C MANE Select	NP_742105.1:p.Glu799Ala
NM_172108.5:c.2303A>C	NP_742106.1:p.Glu768Ala
NM_001382235.1:c.2450A>C	NP_001369164.1:p.Glu817Ala