Canonical Allele Identifier: CA409636945

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038148G>C (hg19) ; chr20:g.63406795G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406795G>C , CM000682.2:g.63406795G>C	GRCh38
NC_000020.10:g.62038148G>C , CM000682.1:g.62038148G>C	GRCh37
NC_000020.9:g.61508592G>C	NCBI36
NG_009004.1:g.70846C>G
NG_009004.2:g.70846C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2522C>G	ENSP00000516702.1:p.Ala841Gly
ENST00000359125.7:c.2468C>G MANE Select	ENSP00000352035.2:p.Ala823Gly
ENST00000637193.1:c.1865C>G	ENSP00000490734.1:p.Ala622Gly
ENST00000344462.8:c.2375C>G	ENSP00000339611.4:p.Ala792Gly
ENST00000357249.6:c.2036C>G	ENSP00000349789.3:p.Ala679Gly
ENST00000359125.6:c.2468C>G	ENSP00000352035.2:p.Ala823Gly
ENST00000360480.7:c.2384C>G	ENSP00000353668.3:p.Ala795Gly
ENST00000370224.5:c.2241+251C>G	ENSP00000359244.2:n.2241+251C>G
ENST00000625514.2:c.2205+251C>G	ENSP00000486040.1:n.2205+251C>G
ENST00000626839.2:c.2414C>G	ENSP00000486706.1:p.Ala805Gly
ENST00000629241.2:c.2133+251C>G	ENSP00000487142.1:n.2133+251C>G
ENST00000629676.2:c.1680-5952C>G	ENSP00000486194.1:n.1680-5952C>G
NM_004518.4:c.2384C>G	NP_004509.2:p.Ala795Gly
NM_172106.1:c.2414C>G	NP_742104.1:p.Ala805Gly
NM_172107.2:c.2468C>G	NP_742105.1:p.Ala823Gly
NM_172108.3:c.2375C>G	NP_742106.1:p.Ala792Gly
XM_006723787.1:c.2510C>G	XP_006723850.1:p.Ala837Gly
XM_011528807.1:c.2576C>G	XP_011527109.1:p.Ala859Gly
XM_011528808.1:c.2573C>G	XP_011527110.1:p.Ala858Gly
XM_011528809.1:c.2546C>G	XP_011527111.1:p.Ala849Gly
XM_011528810.1:c.2522C>G	XP_011527112.1:p.Ala841Gly
XM_011528811.1:c.2492C>G	XP_011527113.1:p.Ala831Gly
XM_011528812.1:c.2465C>G	XP_011527114.1:p.Ala822Gly
XM_011528813.1:c.2450C>G	XP_011527115.1:p.Ala817Gly
XM_011528814.1:c.2057C>G	XP_011527116.1:p.Ala686Gly
NM_004518.5:c.2384C>G	NP_004509.2:p.Ala795Gly
NM_172106.2:c.2414C>G	NP_742104.1:p.Ala805Gly
NM_172107.3:c.2468C>G	NP_742105.1:p.Ala823Gly
NM_172108.4:c.2375C>G	NP_742106.1:p.Ala792Gly
XM_011528810.2:c.2522C>G	XP_011527112.1:p.Ala841Gly
XM_011528811.2:c.2492C>G	XP_011527113.1:p.Ala831Gly
XM_017027841.2:c.2519C>G	XP_016883330.1:p.Ala840Gly
XM_017027842.2:c.2456C>G	XP_016883331.1:p.Ala819Gly
XM_017027843.1:c.2453C>G	XP_016883332.1:p.Ala818Gly
XM_017027844.2:c.2411C>G	XP_016883333.1:p.Ala804Gly
XM_017027845.1:c.1484C>G	XP_016883334.1:p.Ala495Gly
NM_004518.6:c.2384C>G	NP_004509.2:p.Ala795Gly
NM_172106.3:c.2414C>G	NP_742104.1:p.Ala805Gly
NM_172107.4:c.2468C>G MANE Select	NP_742105.1:p.Ala823Gly
NM_172108.5:c.2375C>G	NP_742106.1:p.Ala792Gly
NM_001382235.1:c.2522C>G	NP_001369164.1:p.Ala841Gly