Canonical Allele Identifier: CA409636947

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406795-G-T
• MyVariant Identifiers: chr20:g.62038148G>T (hg19) ; chr20:g.63406795G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2522C>A	ENSP00000516702.1:p.Ala841Asp
ENST00000359125.7:c.2468C>A MANE Select	ENSP00000352035.2:p.Ala823Asp
ENST00000637193.1:c.1865C>A	ENSP00000490734.1:p.Ala622Asp
ENST00000344462.8:c.2375C>A	ENSP00000339611.4:p.Ala792Asp
ENST00000357249.6:c.2036C>A	ENSP00000349789.3:p.Ala679Asp
ENST00000359125.6:c.2468C>A	ENSP00000352035.2:p.Ala823Asp
ENST00000360480.7:c.2384C>A	ENSP00000353668.3:p.Ala795Asp
ENST00000370224.5:c.2241+251C>A	ENSP00000359244.2:n.2241+251C>A
ENST00000625514.2:c.2205+251C>A	ENSP00000486040.1:n.2205+251C>A
ENST00000626839.2:c.2414C>A	ENSP00000486706.1:p.Ala805Asp
ENST00000629241.2:c.2133+251C>A	ENSP00000487142.1:n.2133+251C>A
ENST00000629676.2:c.1680-5952C>A	ENSP00000486194.1:n.1680-5952C>A
NM_004518.4:c.2384C>A	NP_004509.2:p.Ala795Asp
NM_172106.1:c.2414C>A	NP_742104.1:p.Ala805Asp
NM_172107.2:c.2468C>A	NP_742105.1:p.Ala823Asp
NM_172108.3:c.2375C>A	NP_742106.1:p.Ala792Asp
XM_006723787.1:c.2510C>A	XP_006723850.1:p.Ala837Asp
XM_011528807.1:c.2576C>A	XP_011527109.1:p.Ala859Asp
XM_011528808.1:c.2573C>A	XP_011527110.1:p.Ala858Asp
XM_011528809.1:c.2546C>A	XP_011527111.1:p.Ala849Asp
XM_011528810.1:c.2522C>A	XP_011527112.1:p.Ala841Asp
XM_011528811.1:c.2492C>A	XP_011527113.1:p.Ala831Asp
XM_011528812.1:c.2465C>A	XP_011527114.1:p.Ala822Asp
XM_011528813.1:c.2450C>A	XP_011527115.1:p.Ala817Asp
XM_011528814.1:c.2057C>A	XP_011527116.1:p.Ala686Asp
NM_004518.5:c.2384C>A	NP_004509.2:p.Ala795Asp
NM_172106.2:c.2414C>A	NP_742104.1:p.Ala805Asp
NM_172107.3:c.2468C>A	NP_742105.1:p.Ala823Asp
NM_172108.4:c.2375C>A	NP_742106.1:p.Ala792Asp
XM_011528810.2:c.2522C>A	XP_011527112.1:p.Ala841Asp
XM_011528811.2:c.2492C>A	XP_011527113.1:p.Ala831Asp
XM_017027841.2:c.2519C>A	XP_016883330.1:p.Ala840Asp
XM_017027842.2:c.2456C>A	XP_016883331.1:p.Ala819Asp
XM_017027843.1:c.2453C>A	XP_016883332.1:p.Ala818Asp
XM_017027844.2:c.2411C>A	XP_016883333.1:p.Ala804Asp
XM_017027845.1:c.1484C>A	XP_016883334.1:p.Ala495Asp
NM_004518.6:c.2384C>A	NP_004509.2:p.Ala795Asp
NM_172106.3:c.2414C>A	NP_742104.1:p.Ala805Asp
NM_172107.4:c.2468C>A MANE Select	NP_742105.1:p.Ala823Asp
NM_172108.5:c.2375C>A	NP_742106.1:p.Ala792Asp
NM_001382235.1:c.2522C>A	NP_001369164.1:p.Ala841Asp