Canonical Allele Identifier: CA511339182

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038027A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406674A>G , CM000682.2:g.63406674A>G	GRCh38
NC_000020.10:g.62038027A>G , CM000682.1:g.62038027A>G	GRCh37
NC_000020.9:g.61508471A>G	NCBI36
NG_009004.1:g.70967T>C
NG_009004.2:g.70967T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2643T>C	ENSP00000516702.1:p.Gly881=
ENST00000359125.7:c.2589T>C MANE Select	ENSP00000352035.2:p.Gly863=
ENST00000637193.1:c.1986T>C	ENSP00000490734.1:p.Gly662=
ENST00000344462.8:c.2496T>C	ENSP00000339611.4:p.Gly832=
ENST00000357249.6:c.2157T>C	ENSP00000349789.3:p.Gly719=
ENST00000359125.6:c.2589T>C	ENSP00000352035.2:p.Gly863=
ENST00000360480.7:c.2505T>C	ENSP00000353668.3:p.Gly835=
ENST00000370224.5:c.2241+372T>C	ENSP00000359244.2:n.2241+372T>C
ENST00000625514.2:c.2205+372T>C	ENSP00000486040.1:n.2205+372T>C
ENST00000626839.2:c.2535T>C	ENSP00000486706.1:p.Gly845=
ENST00000629241.2:c.2133+372T>C	ENSP00000487142.1:n.2133+372T>C
ENST00000629676.2:c.1680-5831T>C	ENSP00000486194.1:n.1680-5831T>C
NM_004518.4:c.2505T>C	NP_004509.2:p.Gly835=
NM_172106.1:c.2535T>C	NP_742104.1:p.Gly845=
NM_172107.2:c.2589T>C	NP_742105.1:p.Gly863=
NM_172108.3:c.2496T>C	NP_742106.1:p.Gly832=
XM_006723787.1:c.2631T>C	XP_006723850.1:p.Gly877=
XM_011528807.1:c.2697T>C	XP_011527109.1:p.Gly899=
XM_011528808.1:c.2694T>C	XP_011527110.1:p.Gly898=
XM_011528809.1:c.2667T>C	XP_011527111.1:p.Gly889=
XM_011528810.1:c.2643T>C	XP_011527112.1:p.Gly881=
XM_011528811.1:c.2613T>C	XP_011527113.1:p.Gly871=
XM_011528812.1:c.2586T>C	XP_011527114.1:p.Gly862=
XM_011528813.1:c.2571T>C	XP_011527115.1:p.Gly857=
XM_011528814.1:c.2178T>C	XP_011527116.1:p.Gly726=
NM_004518.5:c.2505T>C	NP_004509.2:p.Gly835=
NM_172106.2:c.2535T>C	NP_742104.1:p.Gly845=
NM_172107.3:c.2589T>C	NP_742105.1:p.Gly863=
NM_172108.4:c.2496T>C	NP_742106.1:p.Gly832=
XM_011528810.2:c.2643T>C	XP_011527112.1:p.Gly881=
XM_011528811.2:c.2613T>C	XP_011527113.1:p.Gly871=
XM_017027841.2:c.2640T>C	XP_016883330.1:p.Gly880=
XM_017027842.2:c.2577T>C	XP_016883331.1:p.Gly859=
XM_017027843.1:c.2574T>C	XP_016883332.1:p.Gly858=
XM_017027844.2:c.2532T>C	XP_016883333.1:p.Gly844=
XM_017027845.1:c.1605T>C	XP_016883334.1:p.Gly535=
NM_004518.6:c.2505T>C	NP_004509.2:p.Gly835=
NM_172106.3:c.2535T>C	NP_742104.1:p.Gly845=
NM_172107.4:c.2589T>C MANE Select	NP_742105.1:p.Gly863=
NM_172108.5:c.2496T>C	NP_742106.1:p.Gly832=
NM_001382235.1:c.2643T>C	NP_001369164.1:p.Gly881=