Canonical Allele Identifier: CA409637772

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406941-G-T
• MyVariant Identifiers: chr20:g.62038294G>T (hg19) ; chr20:g.63406941G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406941G>T , CM000682.2:g.63406941G>T	GRCh38
NC_000020.10:g.62038294G>T , CM000682.1:g.62038294G>T	GRCh37
NC_000020.9:g.61508738G>T	NCBI36
NG_009004.1:g.70700C>A
NG_009004.2:g.70700C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2376C>A	ENSP00000516702.1:p.Cys792Ter
ENST00000359125.7:c.2322C>A MANE Select	ENSP00000352035.2:p.Cys774Ter
ENST00000637193.1:c.1719C>A	ENSP00000490734.1:p.Cys573Ter
ENST00000344462.8:c.2229C>A	ENSP00000339611.4:p.Cys743Ter
ENST00000357249.6:c.1890C>A	ENSP00000349789.3:p.Cys630Ter
ENST00000359125.6:c.2322C>A	ENSP00000352035.2:p.Cys774Ter
ENST00000360480.7:c.2238C>A	ENSP00000353668.3:p.Cys746Ter
ENST00000370224.5:c.2241+105C>A	ENSP00000359244.2:n.2241+105C>A
ENST00000625514.2:c.2205+105C>A	ENSP00000486040.1:n.2205+105C>A
ENST00000626839.2:c.2268C>A	ENSP00000486706.1:p.Cys756Ter
ENST00000629241.2:c.2133+105C>A	ENSP00000487142.1:n.2133+105C>A
ENST00000629676.2:c.1680-6098C>A	ENSP00000486194.1:n.1680-6098C>A
NM_004518.4:c.2238C>A	NP_004509.2:p.Cys746Ter
NM_172106.1:c.2268C>A	NP_742104.1:p.Cys756Ter
NM_172107.2:c.2322C>A	NP_742105.1:p.Cys774Ter
NM_172108.3:c.2229C>A	NP_742106.1:p.Cys743Ter
XM_006723787.1:c.2364C>A	XP_006723850.1:p.Cys788Ter
XM_011528807.1:c.2430C>A	XP_011527109.1:p.Cys810Ter
XM_011528808.1:c.2427C>A	XP_011527110.1:p.Cys809Ter
XM_011528809.1:c.2400C>A	XP_011527111.1:p.Cys800Ter
XM_011528810.1:c.2376C>A	XP_011527112.1:p.Cys792Ter
XM_011528811.1:c.2346C>A	XP_011527113.1:p.Cys782Ter
XM_011528812.1:c.2319C>A	XP_011527114.1:p.Cys773Ter
XM_011528813.1:c.2304C>A	XP_011527115.1:p.Cys768Ter
XM_011528814.1:c.1911C>A	XP_011527116.1:p.Cys637Ter
NM_004518.5:c.2238C>A	NP_004509.2:p.Cys746Ter
NM_172106.2:c.2268C>A	NP_742104.1:p.Cys756Ter
NM_172107.3:c.2322C>A	NP_742105.1:p.Cys774Ter
NM_172108.4:c.2229C>A	NP_742106.1:p.Cys743Ter
XM_011528810.2:c.2376C>A	XP_011527112.1:p.Cys792Ter
XM_011528811.2:c.2346C>A	XP_011527113.1:p.Cys782Ter
XM_017027841.2:c.2373C>A	XP_016883330.1:p.Cys791Ter
XM_017027842.2:c.2310C>A	XP_016883331.1:p.Cys770Ter
XM_017027843.1:c.2307C>A	XP_016883332.1:p.Cys769Ter
XM_017027844.2:c.2265C>A	XP_016883333.1:p.Cys755Ter
XM_017027845.1:c.1338C>A	XP_016883334.1:p.Cys446Ter
NM_004518.6:c.2238C>A	NP_004509.2:p.Cys746Ter
NM_172106.3:c.2268C>A	NP_742104.1:p.Cys756Ter
NM_172107.4:c.2322C>A MANE Select	NP_742105.1:p.Cys774Ter
NM_172108.5:c.2229C>A	NP_742106.1:p.Cys743Ter
NM_001382235.1:c.2376C>A	NP_001369164.1:p.Cys792Ter