Canonical Allele Identifier: CA409645830

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63414191-C-T
• MyVariant Identifiers: chr20:g.62045544C>T (hg19) ; chr20:g.63414191C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414191C>T , CM000682.2:g.63414191C>T	GRCh38
NC_000020.10:g.62045544C>T , CM000682.1:g.62045544C>T	GRCh37
NC_000020.9:g.61515988C>T	NCBI36
NG_009004.1:g.63450G>A
NG_009004.2:g.63450G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1474G>A	ENSP00000516702.1:p.Ala492Thr
ENST00000359125.7:c.1528G>A MANE Select	ENSP00000352035.2:p.Ala510Thr
ENST00000637193.1:c.925G>A	ENSP00000490734.1:p.Ala309Thr
ENST00000344462.8:c.1436-1G>A	ENSP00000339611.4:n.1436-1G>A
ENST00000357249.6:c.1096G>A	ENSP00000349789.3:p.Ala366Thr
ENST00000359125.6:c.1528G>A	ENSP00000352035.2:p.Ala510Thr
ENST00000360480.7:c.1444G>A	ENSP00000353668.3:p.Ala482Thr
ENST00000370224.5:c.1444G>A	ENSP00000359244.2:p.Ala482Thr
ENST00000625514.2:c.1408G>A	ENSP00000486040.1:p.Ala470Thr
ENST00000626839.2:c.1474G>A	ENSP00000486706.1:p.Ala492Thr
ENST00000627221.2:c.586-1G>A
ENST00000629241.2:c.1444G>A	ENSP00000487142.1:p.Ala482Thr
ENST00000629318.1:c.136G>A	ENSP00000487384.1:p.Ala46Thr
ENST00000629676.2:c.1444G>A	ENSP00000486194.1:p.Ala482Thr
NM_004518.4:c.1444G>A	NP_004509.2:p.Ala482Thr
NM_172106.1:c.1474G>A	NP_742104.1:p.Ala492Thr
NM_172107.2:c.1528G>A	NP_742105.1:p.Ala510Thr
NM_172108.3:c.1436-1G>A	NP_742106.1:n.1436-1G>A
XM_006723787.1:c.1528G>A	XP_006723850.1:p.Ala510Thr
XM_011528807.1:c.1528G>A	XP_011527109.1:p.Ala510Thr
XM_011528808.1:c.1526-1G>A	XP_011527110.1:n.1526-1G>A
XM_011528809.1:c.1498G>A	XP_011527111.1:p.Ala500Thr
XM_011528810.1:c.1474G>A	XP_011527112.1:p.Ala492Thr
XM_011528811.1:c.1444G>A	XP_011527113.1:p.Ala482Thr
XM_011528812.1:c.1526-1G>A	XP_011527114.1:n.1526-1G>A
XM_011528813.1:c.1402G>A	XP_011527115.1:p.Ala468Thr
XM_011528814.1:c.1009G>A	XP_011527116.1:p.Ala337Thr
XM_011528815.1:c.1528G>A	XP_011527117.1:p.Ala510Thr
NM_004518.5:c.1444G>A	NP_004509.2:p.Ala482Thr
NM_172106.2:c.1474G>A	NP_742104.1:p.Ala492Thr
NM_172107.3:c.1528G>A	NP_742105.1:p.Ala510Thr
NM_172108.4:c.1436-1G>A	NP_742106.1:n.1436-1G>A
XM_011528810.2:c.1474G>A	XP_011527112.1:p.Ala492Thr
XM_011528811.2:c.1444G>A	XP_011527113.1:p.Ala482Thr
XM_017027841.2:c.1472-1G>A	XP_016883330.1:n.1472-1G>A
XM_017027842.2:c.1474G>A	XP_016883331.1:p.Ala492Thr
XM_017027843.1:c.1405G>A	XP_016883332.1:p.Ala469Thr
XM_017027844.2:c.1472-1G>A	XP_016883333.1:n.1472-1G>A
XM_017027845.1:c.436G>A	XP_016883334.1:p.Ala146Thr
NM_004518.6:c.1444G>A	NP_004509.2:p.Ala482Thr
NM_172106.3:c.1474G>A	NP_742104.1:p.Ala492Thr
NM_172107.4:c.1528G>A MANE Select	NP_742105.1:p.Ala510Thr
NM_172108.5:c.1436-1G>A	NP_742106.1:n.1436-1G>A
NM_001382235.1:c.1474G>A	NP_001369164.1:p.Ala492Thr