Canonical Allele Identifier: CA9958188

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 369813
• ClinVar RCV Id: RCV000678202 ; RCV001447822
• dbSNP Id: rs749070370
• ExAC: 20:62038660 C / T
• gnomAD v2: 20-62038660-C-T
• gnomAD v4: 20-63407307-C-T
• MyVariant Identifiers: chr20:g.62038660C>T (hg19) ; chr20:g.63407307C>T (hg38)
• PubMed: PMID:20437616 ; PMID:25959266

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407307C>T , CM000682.2:g.63407307C>T	GRCh38
NC_000020.10:g.62038660C>T , CM000682.1:g.62038660C>T	GRCh37
NC_000020.9:g.61509104C>T	NCBI36
NG_009004.1:g.70334G>A
NG_009004.2:g.70334G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2010G>A	ENSP00000516702.1:p.Pro670=
ENST00000359125.7:c.1956G>A MANE Select	ENSP00000352035.2:p.Pro652=
ENST00000637193.1:c.1353G>A	ENSP00000490734.1:p.Pro451=
ENST00000344462.8:c.1863G>A	ENSP00000339611.4:p.Pro621=
ENST00000357249.6:c.1524G>A	ENSP00000349789.3:p.Pro508=
ENST00000359125.6:c.1956G>A	ENSP00000352035.2:p.Pro652=
ENST00000360480.7:c.1872G>A	ENSP00000353668.3:p.Pro624=
ENST00000370224.5:c.1980G>A	ENSP00000359244.2:p.Pro660=
ENST00000625514.2:c.1944G>A	ENSP00000486040.1:p.Pro648=
ENST00000626839.2:c.1902G>A	ENSP00000486706.1:p.Pro634=
ENST00000629241.2:c.1872G>A	ENSP00000487142.1:p.Pro624=
ENST00000629676.2:c.1679+6143G>A	ENSP00000486194.1:n.1679+6143G>A
NM_004518.4:c.1872G>A	NP_004509.2:p.Pro624=
NM_172106.1:c.1902G>A	NP_742104.1:p.Pro634=
NM_172107.2:c.1956G>A	NP_742105.1:p.Pro652=
NM_172108.3:c.1863G>A	NP_742106.1:p.Pro621=
XM_006723787.1:c.1998G>A	XP_006723850.1:p.Pro666=
XM_011528807.1:c.2064G>A	XP_011527109.1:p.Pro688=
XM_011528808.1:c.2061G>A	XP_011527110.1:p.Pro687=
XM_011528809.1:c.2034G>A	XP_011527111.1:p.Pro678=
XM_011528810.1:c.2010G>A	XP_011527112.1:p.Pro670=
XM_011528811.1:c.1980G>A	XP_011527113.1:p.Pro660=
XM_011528812.1:c.1953G>A	XP_011527114.1:p.Pro651=
XM_011528813.1:c.1938G>A	XP_011527115.1:p.Pro646=
XM_011528814.1:c.1545G>A	XP_011527116.1:p.Pro515=
NM_004518.5:c.1872G>A	NP_004509.2:p.Pro624=
NM_172106.2:c.1902G>A	NP_742104.1:p.Pro634=
NM_172107.3:c.1956G>A	NP_742105.1:p.Pro652=
NM_172108.4:c.1863G>A	NP_742106.1:p.Pro621=
XM_011528810.2:c.2010G>A	XP_011527112.1:p.Pro670=
XM_011528811.2:c.1980G>A	XP_011527113.1:p.Pro660=
XM_017027841.2:c.2007G>A	XP_016883330.1:p.Pro669=
XM_017027842.2:c.1944G>A	XP_016883331.1:p.Pro648=
XM_017027843.1:c.1941G>A	XP_016883332.1:p.Pro647=
XM_017027844.2:c.1899G>A	XP_016883333.1:p.Pro633=
XM_017027845.1:c.972G>A	XP_016883334.1:p.Pro324=
NM_004518.6:c.1872G>A	NP_004509.2:p.Pro624=
NM_172106.3:c.1902G>A	NP_742104.1:p.Pro634=
NM_172107.4:c.1956G>A MANE Select	NP_742105.1:p.Pro652=
NM_172108.5:c.1863G>A	NP_742106.1:p.Pro621=
NM_001382235.1:c.2010G>A	NP_001369164.1:p.Pro670=