Canonical Allele Identifier: CA317421739

Gene: KCNQ2

Linked Data

• dbSNP Id: rs77773377
• MyVariant Identifiers: chr20:g.62038175A>C (hg19) ; chr20:g.63406822A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406822A>C , CM000682.2:g.63406822A>C	GRCh38
NC_000020.10:g.62038175A>C , CM000682.1:g.62038175A>C	GRCh37
NC_000020.9:g.61508619A>C	NCBI36
NG_009004.1:g.70819T>G
NG_009004.2:g.70819T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2495T>G	ENSP00000516702.1:p.Leu832Arg
ENST00000359125.7:c.2441T>G MANE Select	ENSP00000352035.2:p.Leu814Arg
ENST00000637193.1:c.1838T>G	ENSP00000490734.1:p.Leu613Arg
ENST00000344462.8:c.2348T>G	ENSP00000339611.4:p.Leu783Arg
ENST00000357249.6:c.2009T>G	ENSP00000349789.3:p.Leu670Arg
ENST00000359125.6:c.2441T>G	ENSP00000352035.2:p.Leu814Arg
ENST00000360480.7:c.2357T>G	ENSP00000353668.3:p.Leu786Arg
ENST00000370224.5:c.2241+224T>G	ENSP00000359244.2:n.2241+224T>G
ENST00000625514.2:c.2205+224T>G	ENSP00000486040.1:n.2205+224T>G
ENST00000626839.2:c.2387T>G	ENSP00000486706.1:p.Leu796Arg
ENST00000629241.2:c.2133+224T>G	ENSP00000487142.1:n.2133+224T>G
ENST00000629676.2:c.1680-5979T>G	ENSP00000486194.1:n.1680-5979T>G
NM_004518.4:c.2357T>G	NP_004509.2:p.Leu786Arg
NM_172106.1:c.2387T>G	NP_742104.1:p.Leu796Arg
NM_172107.2:c.2441T>G	NP_742105.1:p.Leu814Arg
NM_172108.3:c.2348T>G	NP_742106.1:p.Leu783Arg
XM_006723787.1:c.2483T>G	XP_006723850.1:p.Leu828Arg
XM_011528807.1:c.2549T>G	XP_011527109.1:p.Leu850Arg
XM_011528808.1:c.2546T>G	XP_011527110.1:p.Leu849Arg
XM_011528809.1:c.2519T>G	XP_011527111.1:p.Leu840Arg
XM_011528810.1:c.2495T>G	XP_011527112.1:p.Leu832Arg
XM_011528811.1:c.2465T>G	XP_011527113.1:p.Leu822Arg
XM_011528812.1:c.2438T>G	XP_011527114.1:p.Leu813Arg
XM_011528813.1:c.2423T>G	XP_011527115.1:p.Leu808Arg
XM_011528814.1:c.2030T>G	XP_011527116.1:p.Leu677Arg
NM_004518.5:c.2357T>G	NP_004509.2:p.Leu786Arg
NM_172106.2:c.2387T>G	NP_742104.1:p.Leu796Arg
NM_172107.3:c.2441T>G	NP_742105.1:p.Leu814Arg
NM_172108.4:c.2348T>G	NP_742106.1:p.Leu783Arg
XM_011528810.2:c.2495T>G	XP_011527112.1:p.Leu832Arg
XM_011528811.2:c.2465T>G	XP_011527113.1:p.Leu822Arg
XM_017027841.2:c.2492T>G	XP_016883330.1:p.Leu831Arg
XM_017027842.2:c.2429T>G	XP_016883331.1:p.Leu810Arg
XM_017027843.1:c.2426T>G	XP_016883332.1:p.Leu809Arg
XM_017027844.2:c.2384T>G	XP_016883333.1:p.Leu795Arg
XM_017027845.1:c.1457T>G	XP_016883334.1:p.Leu486Arg
NM_004518.6:c.2357T>G	NP_004509.2:p.Leu786Arg
NM_172106.3:c.2387T>G	NP_742104.1:p.Leu796Arg
NM_172107.4:c.2441T>G MANE Select	NP_742105.1:p.Leu814Arg
NM_172108.5:c.2348T>G	NP_742106.1:p.Leu783Arg
NM_001382235.1:c.2495T>G	NP_001369164.1:p.Leu832Arg