Canonical Allele Identifier: CA409637769

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 2433026
• ClinVar RCV Id: RCV003133811
• gnomAD v4: 20-63406940-T-C
• MyVariant Identifiers: chr20:g.62038293T>C (hg19) ; chr20:g.63406940T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406940T>C , CM000682.2:g.63406940T>C	GRCh38
NC_000020.10:g.62038293T>C , CM000682.1:g.62038293T>C	GRCh37
NC_000020.9:g.61508737T>C	NCBI36
NG_009004.1:g.70701A>G
NG_009004.2:g.70701A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2377A>G	ENSP00000516702.1:p.Arg793Gly
ENST00000359125.7:c.2323A>G MANE Select	ENSP00000352035.2:p.Arg775Gly
ENST00000637193.1:c.1720A>G	ENSP00000490734.1:p.Arg574Gly
ENST00000344462.8:c.2230A>G	ENSP00000339611.4:p.Arg744Gly
ENST00000357249.6:c.1891A>G	ENSP00000349789.3:p.Arg631Gly
ENST00000359125.6:c.2323A>G	ENSP00000352035.2:p.Arg775Gly
ENST00000360480.7:c.2239A>G	ENSP00000353668.3:p.Arg747Gly
ENST00000370224.5:c.2241+106A>G	ENSP00000359244.2:n.2241+106A>G
ENST00000625514.2:c.2205+106A>G	ENSP00000486040.1:n.2205+106A>G
ENST00000626839.2:c.2269A>G	ENSP00000486706.1:p.Arg757Gly
ENST00000629241.2:c.2133+106A>G	ENSP00000487142.1:n.2133+106A>G
ENST00000629676.2:c.1680-6097A>G	ENSP00000486194.1:n.1680-6097A>G
NM_004518.4:c.2239A>G	NP_004509.2:p.Arg747Gly
NM_172106.1:c.2269A>G	NP_742104.1:p.Arg757Gly
NM_172107.2:c.2323A>G	NP_742105.1:p.Arg775Gly
NM_172108.3:c.2230A>G	NP_742106.1:p.Arg744Gly
XM_006723787.1:c.2365A>G	XP_006723850.1:p.Arg789Gly
XM_011528807.1:c.2431A>G	XP_011527109.1:p.Arg811Gly
XM_011528808.1:c.2428A>G	XP_011527110.1:p.Arg810Gly
XM_011528809.1:c.2401A>G	XP_011527111.1:p.Arg801Gly
XM_011528810.1:c.2377A>G	XP_011527112.1:p.Arg793Gly
XM_011528811.1:c.2347A>G	XP_011527113.1:p.Arg783Gly
XM_011528812.1:c.2320A>G	XP_011527114.1:p.Arg774Gly
XM_011528813.1:c.2305A>G	XP_011527115.1:p.Arg769Gly
XM_011528814.1:c.1912A>G	XP_011527116.1:p.Arg638Gly
NM_004518.5:c.2239A>G	NP_004509.2:p.Arg747Gly
NM_172106.2:c.2269A>G	NP_742104.1:p.Arg757Gly
NM_172107.3:c.2323A>G	NP_742105.1:p.Arg775Gly
NM_172108.4:c.2230A>G	NP_742106.1:p.Arg744Gly
XM_011528810.2:c.2377A>G	XP_011527112.1:p.Arg793Gly
XM_011528811.2:c.2347A>G	XP_011527113.1:p.Arg783Gly
XM_017027841.2:c.2374A>G	XP_016883330.1:p.Arg792Gly
XM_017027842.2:c.2311A>G	XP_016883331.1:p.Arg771Gly
XM_017027843.1:c.2308A>G	XP_016883332.1:p.Arg770Gly
XM_017027844.2:c.2266A>G	XP_016883333.1:p.Arg756Gly
XM_017027845.1:c.1339A>G	XP_016883334.1:p.Arg447Gly
NM_004518.6:c.2239A>G	NP_004509.2:p.Arg747Gly
NM_172106.3:c.2269A>G	NP_742104.1:p.Arg757Gly
NM_172107.4:c.2323A>G MANE Select	NP_742105.1:p.Arg775Gly
NM_172108.5:c.2230A>G	NP_742106.1:p.Arg744Gly
NM_001382235.1:c.2377A>G	NP_001369164.1:p.Arg793Gly