Canonical Allele Identifier: CA409639215

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407264-C-T
• COSMIC: COSM140869
• MyVariant Identifiers: chr20:g.62038617C>T (hg19) ; chr20:g.63407264C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407264C>T , CM000682.2:g.63407264C>T	GRCh38
NC_000020.10:g.62038617C>T , CM000682.1:g.62038617C>T	GRCh37
NC_000020.9:g.61509061C>T	NCBI36
NG_009004.1:g.70377G>A
NG_009004.2:g.70377G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2053G>A	ENSP00000516702.1:p.Ala685Thr
ENST00000359125.7:c.1999G>A MANE Select	ENSP00000352035.2:p.Ala667Thr
ENST00000637193.1:c.1396G>A	ENSP00000490734.1:p.Ala466Thr
ENST00000344462.8:c.1906G>A	ENSP00000339611.4:p.Ala636Thr
ENST00000357249.6:c.1567G>A	ENSP00000349789.3:p.Ala523Thr
ENST00000359125.6:c.1999G>A	ENSP00000352035.2:p.Ala667Thr
ENST00000360480.7:c.1915G>A	ENSP00000353668.3:p.Ala639Thr
ENST00000370224.5:c.2023G>A	ENSP00000359244.2:p.Ala675Thr
ENST00000625514.2:c.1987G>A	ENSP00000486040.1:p.Ala663Thr
ENST00000626839.2:c.1945G>A	ENSP00000486706.1:p.Ala649Thr
ENST00000629241.2:c.1915G>A	ENSP00000487142.1:p.Ala639Thr
ENST00000629676.2:c.1679+6186G>A	ENSP00000486194.1:n.1679+6186G>A
NM_004518.4:c.1915G>A	NP_004509.2:p.Ala639Thr
NM_172106.1:c.1945G>A	NP_742104.1:p.Ala649Thr
NM_172107.2:c.1999G>A	NP_742105.1:p.Ala667Thr
NM_172108.3:c.1906G>A	NP_742106.1:p.Ala636Thr
XM_006723787.1:c.2041G>A	XP_006723850.1:p.Ala681Thr
XM_011528807.1:c.2107G>A	XP_011527109.1:p.Ala703Thr
XM_011528808.1:c.2104G>A	XP_011527110.1:p.Ala702Thr
XM_011528809.1:c.2077G>A	XP_011527111.1:p.Ala693Thr
XM_011528810.1:c.2053G>A	XP_011527112.1:p.Ala685Thr
XM_011528811.1:c.2023G>A	XP_011527113.1:p.Ala675Thr
XM_011528812.1:c.1996G>A	XP_011527114.1:p.Ala666Thr
XM_011528813.1:c.1981G>A	XP_011527115.1:p.Ala661Thr
XM_011528814.1:c.1588G>A	XP_011527116.1:p.Ala530Thr
NM_004518.5:c.1915G>A	NP_004509.2:p.Ala639Thr
NM_172106.2:c.1945G>A	NP_742104.1:p.Ala649Thr
NM_172107.3:c.1999G>A	NP_742105.1:p.Ala667Thr
NM_172108.4:c.1906G>A	NP_742106.1:p.Ala636Thr
XM_011528810.2:c.2053G>A	XP_011527112.1:p.Ala685Thr
XM_011528811.2:c.2023G>A	XP_011527113.1:p.Ala675Thr
XM_017027841.2:c.2050G>A	XP_016883330.1:p.Ala684Thr
XM_017027842.2:c.1987G>A	XP_016883331.1:p.Ala663Thr
XM_017027843.1:c.1984G>A	XP_016883332.1:p.Ala662Thr
XM_017027844.2:c.1942G>A	XP_016883333.1:p.Ala648Thr
XM_017027845.1:c.1015G>A	XP_016883334.1:p.Ala339Thr
NM_004518.6:c.1915G>A	NP_004509.2:p.Ala639Thr
NM_172106.3:c.1945G>A	NP_742104.1:p.Ala649Thr
NM_172107.4:c.1999G>A MANE Select	NP_742105.1:p.Ala667Thr
NM_172108.5:c.1906G>A	NP_742106.1:p.Ala636Thr
NM_001382235.1:c.2053G>A	NP_001369164.1:p.Ala685Thr