Canonical Allele Identifier: CA409639006

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407169-C-A
• MyVariant Identifiers: chr20:g.62038522C>A (hg19) ; chr20:g.63407169C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407169C>A , CM000682.2:g.63407169C>A	GRCh38
NC_000020.10:g.62038522C>A , CM000682.1:g.62038522C>A	GRCh37
NC_000020.9:g.61508966C>A	NCBI36
NG_009004.1:g.70472G>T
NG_009004.2:g.70472G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2148G>T	ENSP00000516702.1:p.Gln716His
ENST00000359125.7:c.2094G>T MANE Select	ENSP00000352035.2:p.Gln698His
ENST00000637193.1:c.1491G>T	ENSP00000490734.1:p.Gln497His
ENST00000344462.8:c.2001G>T	ENSP00000339611.4:p.Gln667His
ENST00000357249.6:c.1662G>T	ENSP00000349789.3:p.Gln554His
ENST00000359125.6:c.2094G>T	ENSP00000352035.2:p.Gln698His
ENST00000360480.7:c.2010G>T	ENSP00000353668.3:p.Gln670His
ENST00000370224.5:c.2118G>T	ENSP00000359244.2:p.Gln706His
ENST00000625514.2:c.2082G>T	ENSP00000486040.1:p.Gln694His
ENST00000626839.2:c.2040G>T	ENSP00000486706.1:p.Gln680His
ENST00000629241.2:c.2010G>T	ENSP00000487142.1:p.Gln670His
ENST00000629676.2:c.1679+6281G>T	ENSP00000486194.1:n.1679+6281G>T
NM_004518.4:c.2010G>T	NP_004509.2:p.Gln670His
NM_172106.1:c.2040G>T	NP_742104.1:p.Gln680His
NM_172107.2:c.2094G>T	NP_742105.1:p.Gln698His
NM_172108.3:c.2001G>T	NP_742106.1:p.Gln667His
XM_006723787.1:c.2136G>T	XP_006723850.1:p.Gln712His
XM_011528807.1:c.2202G>T	XP_011527109.1:p.Gln734His
XM_011528808.1:c.2199G>T	XP_011527110.1:p.Gln733His
XM_011528809.1:c.2172G>T	XP_011527111.1:p.Gln724His
XM_011528810.1:c.2148G>T	XP_011527112.1:p.Gln716His
XM_011528811.1:c.2118G>T	XP_011527113.1:p.Gln706His
XM_011528812.1:c.2091G>T	XP_011527114.1:p.Gln697His
XM_011528813.1:c.2076G>T	XP_011527115.1:p.Gln692His
XM_011528814.1:c.1683G>T	XP_011527116.1:p.Gln561His
NM_004518.5:c.2010G>T	NP_004509.2:p.Gln670His
NM_172106.2:c.2040G>T	NP_742104.1:p.Gln680His
NM_172107.3:c.2094G>T	NP_742105.1:p.Gln698His
NM_172108.4:c.2001G>T	NP_742106.1:p.Gln667His
XM_011528810.2:c.2148G>T	XP_011527112.1:p.Gln716His
XM_011528811.2:c.2118G>T	XP_011527113.1:p.Gln706His
XM_017027841.2:c.2145G>T	XP_016883330.1:p.Gln715His
XM_017027842.2:c.2082G>T	XP_016883331.1:p.Gln694His
XM_017027843.1:c.2079G>T	XP_016883332.1:p.Gln693His
XM_017027844.2:c.2037G>T	XP_016883333.1:p.Gln679His
XM_017027845.1:c.1110G>T	XP_016883334.1:p.Gln370His
NM_004518.6:c.2010G>T	NP_004509.2:p.Gln670His
NM_172106.3:c.2040G>T	NP_742104.1:p.Gln680His
NM_172107.4:c.2094G>T MANE Select	NP_742105.1:p.Gln698His
NM_172108.5:c.2001G>T	NP_742106.1:p.Gln667His
NM_001382235.1:c.2148G>T	NP_001369164.1:p.Gln716His