Canonical Allele Identifier: CA9958170

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 1161901
• ClinVar RCV Id: RCV001506570 ; RCV003132508
• dbSNP Id: rs769646940
• ExAC: 20:62038597 C / T
• gnomAD v2: 20-62038597-C-T
• gnomAD v3: 20-63407244-C-T
• gnomAD v4: 20-63407244-C-T
• MyVariant Identifiers: chr20:g.62038597C>T (hg19) ; chr20:g.63407244C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407244C>T , CM000682.2:g.63407244C>T	GRCh38
NC_000020.10:g.62038597C>T , CM000682.1:g.62038597C>T	GRCh37
NC_000020.9:g.61509041C>T	NCBI36
NG_009004.1:g.70397G>A
NG_009004.2:g.70397G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2073G>A	ENSP00000516702.1:p.Pro691=
ENST00000359125.7:c.2019G>A MANE Select	ENSP00000352035.2:p.Pro673=
ENST00000637193.1:c.1416G>A	ENSP00000490734.1:p.Pro472=
ENST00000344462.8:c.1926G>A	ENSP00000339611.4:p.Pro642=
ENST00000357249.6:c.1587G>A	ENSP00000349789.3:p.Pro529=
ENST00000359125.6:c.2019G>A	ENSP00000352035.2:p.Pro673=
ENST00000360480.7:c.1935G>A	ENSP00000353668.3:p.Pro645=
ENST00000370224.5:c.2043G>A	ENSP00000359244.2:p.Pro681=
ENST00000625514.2:c.2007G>A	ENSP00000486040.1:p.Pro669=
ENST00000626839.2:c.1965G>A	ENSP00000486706.1:p.Pro655=
ENST00000629241.2:c.1935G>A	ENSP00000487142.1:p.Pro645=
ENST00000629676.2:c.1679+6206G>A	ENSP00000486194.1:n.1679+6206G>A
NM_004518.4:c.1935G>A	NP_004509.2:p.Pro645=
NM_172106.1:c.1965G>A	NP_742104.1:p.Pro655=
NM_172107.2:c.2019G>A	NP_742105.1:p.Pro673=
NM_172108.3:c.1926G>A	NP_742106.1:p.Pro642=
XM_006723787.1:c.2061G>A	XP_006723850.1:p.Pro687=
XM_011528807.1:c.2127G>A	XP_011527109.1:p.Pro709=
XM_011528808.1:c.2124G>A	XP_011527110.1:p.Pro708=
XM_011528809.1:c.2097G>A	XP_011527111.1:p.Pro699=
XM_011528810.1:c.2073G>A	XP_011527112.1:p.Pro691=
XM_011528811.1:c.2043G>A	XP_011527113.1:p.Pro681=
XM_011528812.1:c.2016G>A	XP_011527114.1:p.Pro672=
XM_011528813.1:c.2001G>A	XP_011527115.1:p.Pro667=
XM_011528814.1:c.1608G>A	XP_011527116.1:p.Pro536=
NM_004518.5:c.1935G>A	NP_004509.2:p.Pro645=
NM_172106.2:c.1965G>A	NP_742104.1:p.Pro655=
NM_172107.3:c.2019G>A	NP_742105.1:p.Pro673=
NM_172108.4:c.1926G>A	NP_742106.1:p.Pro642=
XM_011528810.2:c.2073G>A	XP_011527112.1:p.Pro691=
XM_011528811.2:c.2043G>A	XP_011527113.1:p.Pro681=
XM_017027841.2:c.2070G>A	XP_016883330.1:p.Pro690=
XM_017027842.2:c.2007G>A	XP_016883331.1:p.Pro669=
XM_017027843.1:c.2004G>A	XP_016883332.1:p.Pro668=
XM_017027844.2:c.1962G>A	XP_016883333.1:p.Pro654=
XM_017027845.1:c.1035G>A	XP_016883334.1:p.Pro345=
NM_004518.6:c.1935G>A	NP_004509.2:p.Pro645=
NM_172106.3:c.1965G>A	NP_742104.1:p.Pro655=
NM_172107.4:c.2019G>A MANE Select	NP_742105.1:p.Pro673=
NM_172108.5:c.1926G>A	NP_742106.1:p.Pro642=
NM_001382235.1:c.2073G>A	NP_001369164.1:p.Pro691=