Canonical Allele Identifier: CA9958176

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 373184
• ClinVar RCV Id: RCV000414000 ; RCV001299367
• dbSNP Id: rs563291132
• ExAC: 20:62038616 G / A
• gnomAD v2: 20-62038616-G-A
• gnomAD v3: 20-63407263-G-A
• gnomAD v4: 20-63407263-G-A
• MyVariant Identifiers: chr20:g.62038616G>A (hg19) ; chr20:g.63407263G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407263G>A , CM000682.2:g.63407263G>A	GRCh38
NC_000020.10:g.62038616G>A , CM000682.1:g.62038616G>A	GRCh37
NC_000020.9:g.61509060G>A	NCBI36
NG_009004.1:g.70378C>T
NG_009004.2:g.70378C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2054C>T	ENSP00000516702.1:p.Ala685Val
ENST00000359125.7:c.2000C>T MANE Select	ENSP00000352035.2:p.Ala667Val
ENST00000637193.1:c.1397C>T	ENSP00000490734.1:p.Ala466Val
ENST00000344462.8:c.1907C>T	ENSP00000339611.4:p.Ala636Val
ENST00000357249.6:c.1568C>T	ENSP00000349789.3:p.Ala523Val
ENST00000359125.6:c.2000C>T	ENSP00000352035.2:p.Ala667Val
ENST00000360480.7:c.1916C>T	ENSP00000353668.3:p.Ala639Val
ENST00000370224.5:c.2024C>T	ENSP00000359244.2:p.Ala675Val
ENST00000625514.2:c.1988C>T	ENSP00000486040.1:p.Ala663Val
ENST00000626839.2:c.1946C>T	ENSP00000486706.1:p.Ala649Val
ENST00000629241.2:c.1916C>T	ENSP00000487142.1:p.Ala639Val
ENST00000629676.2:c.1679+6187C>T	ENSP00000486194.1:n.1679+6187C>T
NM_004518.4:c.1916C>T	NP_004509.2:p.Ala639Val
NM_172106.1:c.1946C>T	NP_742104.1:p.Ala649Val
NM_172107.2:c.2000C>T	NP_742105.1:p.Ala667Val
NM_172108.3:c.1907C>T	NP_742106.1:p.Ala636Val
XM_006723787.1:c.2042C>T	XP_006723850.1:p.Ala681Val
XM_011528807.1:c.2108C>T	XP_011527109.1:p.Ala703Val
XM_011528808.1:c.2105C>T	XP_011527110.1:p.Ala702Val
XM_011528809.1:c.2078C>T	XP_011527111.1:p.Ala693Val
XM_011528810.1:c.2054C>T	XP_011527112.1:p.Ala685Val
XM_011528811.1:c.2024C>T	XP_011527113.1:p.Ala675Val
XM_011528812.1:c.1997C>T	XP_011527114.1:p.Ala666Val
XM_011528813.1:c.1982C>T	XP_011527115.1:p.Ala661Val
XM_011528814.1:c.1589C>T	XP_011527116.1:p.Ala530Val
NM_004518.5:c.1916C>T	NP_004509.2:p.Ala639Val
NM_172106.2:c.1946C>T	NP_742104.1:p.Ala649Val
NM_172107.3:c.2000C>T	NP_742105.1:p.Ala667Val
NM_172108.4:c.1907C>T	NP_742106.1:p.Ala636Val
XM_011528810.2:c.2054C>T	XP_011527112.1:p.Ala685Val
XM_011528811.2:c.2024C>T	XP_011527113.1:p.Ala675Val
XM_017027841.2:c.2051C>T	XP_016883330.1:p.Ala684Val
XM_017027842.2:c.1988C>T	XP_016883331.1:p.Ala663Val
XM_017027843.1:c.1985C>T	XP_016883332.1:p.Ala662Val
XM_017027844.2:c.1943C>T	XP_016883333.1:p.Ala648Val
XM_017027845.1:c.1016C>T	XP_016883334.1:p.Ala339Val
NM_004518.6:c.1916C>T	NP_004509.2:p.Ala639Val
NM_172106.3:c.1946C>T	NP_742104.1:p.Ala649Val
NM_172107.4:c.2000C>T MANE Select	NP_742105.1:p.Ala667Val
NM_172108.5:c.1907C>T	NP_742106.1:p.Ala636Val
NM_001382235.1:c.2054C>T	NP_001369164.1:p.Ala685Val