Canonical Allele Identifier: CA409637900

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406959-C-A
• MyVariant Identifiers: chr20:g.62038312C>A (hg19) ; chr20:g.63406959C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406959C>A , CM000682.2:g.63406959C>A	GRCh38
NC_000020.10:g.62038312C>A , CM000682.1:g.62038312C>A	GRCh37
NC_000020.9:g.61508756C>A	NCBI36
NG_009004.1:g.70682G>T
NG_009004.2:g.70682G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2358G>T	ENSP00000516702.1:p.Gln786His
ENST00000359125.7:c.2304G>T MANE Select	ENSP00000352035.2:p.Gln768His
ENST00000637193.1:c.1701G>T	ENSP00000490734.1:p.Gln567His
ENST00000344462.8:c.2211G>T	ENSP00000339611.4:p.Gln737His
ENST00000357249.6:c.1872G>T	ENSP00000349789.3:p.Gln624His
ENST00000359125.6:c.2304G>T	ENSP00000352035.2:p.Gln768His
ENST00000360480.7:c.2220G>T	ENSP00000353668.3:p.Gln740His
ENST00000370224.5:c.2241+87G>T	ENSP00000359244.2:n.2241+87G>T
ENST00000625514.2:c.2205+87G>T	ENSP00000486040.1:n.2205+87G>T
ENST00000626839.2:c.2250G>T	ENSP00000486706.1:p.Gln750His
ENST00000629241.2:c.2133+87G>T	ENSP00000487142.1:n.2133+87G>T
ENST00000629676.2:c.1680-6116G>T	ENSP00000486194.1:n.1680-6116G>T
NM_004518.4:c.2220G>T	NP_004509.2:p.Gln740His
NM_172106.1:c.2250G>T	NP_742104.1:p.Gln750His
NM_172107.2:c.2304G>T	NP_742105.1:p.Gln768His
NM_172108.3:c.2211G>T	NP_742106.1:p.Gln737His
XM_006723787.1:c.2346G>T	XP_006723850.1:p.Gln782His
XM_011528807.1:c.2412G>T	XP_011527109.1:p.Gln804His
XM_011528808.1:c.2409G>T	XP_011527110.1:p.Gln803His
XM_011528809.1:c.2382G>T	XP_011527111.1:p.Gln794His
XM_011528810.1:c.2358G>T	XP_011527112.1:p.Gln786His
XM_011528811.1:c.2328G>T	XP_011527113.1:p.Gln776His
XM_011528812.1:c.2301G>T	XP_011527114.1:p.Gln767His
XM_011528813.1:c.2286G>T	XP_011527115.1:p.Gln762His
XM_011528814.1:c.1893G>T	XP_011527116.1:p.Gln631His
NM_004518.5:c.2220G>T	NP_004509.2:p.Gln740His
NM_172106.2:c.2250G>T	NP_742104.1:p.Gln750His
NM_172107.3:c.2304G>T	NP_742105.1:p.Gln768His
NM_172108.4:c.2211G>T	NP_742106.1:p.Gln737His
XM_011528810.2:c.2358G>T	XP_011527112.1:p.Gln786His
XM_011528811.2:c.2328G>T	XP_011527113.1:p.Gln776His
XM_017027841.2:c.2355G>T	XP_016883330.1:p.Gln785His
XM_017027842.2:c.2292G>T	XP_016883331.1:p.Gln764His
XM_017027843.1:c.2289G>T	XP_016883332.1:p.Gln763His
XM_017027844.2:c.2247G>T	XP_016883333.1:p.Gln749His
XM_017027845.1:c.1320G>T	XP_016883334.1:p.Gln440His
NM_004518.6:c.2220G>T	NP_004509.2:p.Gln740His
NM_172106.3:c.2250G>T	NP_742104.1:p.Gln750His
NM_172107.4:c.2304G>T MANE Select	NP_742105.1:p.Gln768His
NM_172108.5:c.2211G>T	NP_742106.1:p.Gln737His
NM_001382235.1:c.2358G>T	NP_001369164.1:p.Gln786His