Canonical Allele Identifier: CA9958186

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 2050710
• ClinVar RCV Id: RCV002904578 ; RCV003435835
• dbSNP Id: rs755777278
• ExAC: 20:62038651 G / A
• gnomAD v2: 20-62038651-G-A
• gnomAD v4: 20-63407298-G-A
• COSMIC: COSM5365879 ; COSM5365880 ; COSM5365881
• MyVariant Identifiers: chr20:g.62038651G>A (hg19) ; chr20:g.63407298G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407298G>A , CM000682.2:g.63407298G>A	GRCh38
NC_000020.10:g.62038651G>A , CM000682.1:g.62038651G>A	GRCh37
NC_000020.9:g.61509095G>A	NCBI36
NG_009004.1:g.70343C>T
NG_009004.2:g.70343C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2019C>T	ENSP00000516702.1:p.Thr673=
ENST00000359125.7:c.1965C>T MANE Select	ENSP00000352035.2:p.Thr655=
ENST00000637193.1:c.1362C>T	ENSP00000490734.1:p.Thr454=
ENST00000344462.8:c.1872C>T	ENSP00000339611.4:p.Thr624=
ENST00000357249.6:c.1533C>T	ENSP00000349789.3:p.Thr511=
ENST00000359125.6:c.1965C>T	ENSP00000352035.2:p.Thr655=
ENST00000360480.7:c.1881C>T	ENSP00000353668.3:p.Thr627=
ENST00000370224.5:c.1989C>T	ENSP00000359244.2:p.Thr663=
ENST00000625514.2:c.1953C>T	ENSP00000486040.1:p.Thr651=
ENST00000626839.2:c.1911C>T	ENSP00000486706.1:p.Thr637=
ENST00000629241.2:c.1881C>T	ENSP00000487142.1:p.Thr627=
ENST00000629676.2:c.1679+6152C>T	ENSP00000486194.1:n.1679+6152C>T
NM_004518.4:c.1881C>T	NP_004509.2:p.Thr627=
NM_172106.1:c.1911C>T	NP_742104.1:p.Thr637=
NM_172107.2:c.1965C>T	NP_742105.1:p.Thr655=
NM_172108.3:c.1872C>T	NP_742106.1:p.Thr624=
XM_006723787.1:c.2007C>T	XP_006723850.1:p.Thr669=
XM_011528807.1:c.2073C>T	XP_011527109.1:p.Thr691=
XM_011528808.1:c.2070C>T	XP_011527110.1:p.Thr690=
XM_011528809.1:c.2043C>T	XP_011527111.1:p.Thr681=
XM_011528810.1:c.2019C>T	XP_011527112.1:p.Thr673=
XM_011528811.1:c.1989C>T	XP_011527113.1:p.Thr663=
XM_011528812.1:c.1962C>T	XP_011527114.1:p.Thr654=
XM_011528813.1:c.1947C>T	XP_011527115.1:p.Thr649=
XM_011528814.1:c.1554C>T	XP_011527116.1:p.Thr518=
NM_004518.5:c.1881C>T	NP_004509.2:p.Thr627=
NM_172106.2:c.1911C>T	NP_742104.1:p.Thr637=
NM_172107.3:c.1965C>T	NP_742105.1:p.Thr655=
NM_172108.4:c.1872C>T	NP_742106.1:p.Thr624=
XM_011528810.2:c.2019C>T	XP_011527112.1:p.Thr673=
XM_011528811.2:c.1989C>T	XP_011527113.1:p.Thr663=
XM_017027841.2:c.2016C>T	XP_016883330.1:p.Thr672=
XM_017027842.2:c.1953C>T	XP_016883331.1:p.Thr651=
XM_017027843.1:c.1950C>T	XP_016883332.1:p.Thr650=
XM_017027844.2:c.1908C>T	XP_016883333.1:p.Thr636=
XM_017027845.1:c.981C>T	XP_016883334.1:p.Thr327=
NM_004518.6:c.1881C>T	NP_004509.2:p.Thr627=
NM_172106.3:c.1911C>T	NP_742104.1:p.Thr637=
NM_172107.4:c.1965C>T MANE Select	NP_742105.1:p.Thr655=
NM_172108.5:c.1872C>T	NP_742106.1:p.Thr624=
NM_001382235.1:c.2019C>T	NP_001369164.1:p.Thr673=