Canonical Allele Identifier: CA409636854

Gene: KCNQ2

Linked Data

• dbSNP Id: rs2079948903
• gnomAD v4: 20-63406772-T-C
• MyVariant Identifiers: chr20:g.62038125T>C (hg19) ; chr20:g.63406772T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406772T>C , CM000682.2:g.63406772T>C	GRCh38
NC_000020.10:g.62038125T>C , CM000682.1:g.62038125T>C	GRCh37
NC_000020.9:g.61508569T>C	NCBI36
NG_009004.1:g.70869A>G
NG_009004.2:g.70869A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2545A>G	ENSP00000516702.1:p.Arg849Gly
ENST00000359125.7:c.2491A>G MANE Select	ENSP00000352035.2:p.Arg831Gly
ENST00000637193.1:c.1888A>G	ENSP00000490734.1:p.Arg630Gly
ENST00000344462.8:c.2398A>G	ENSP00000339611.4:p.Arg800Gly
ENST00000357249.6:c.2059A>G	ENSP00000349789.3:p.Arg687Gly
ENST00000359125.6:c.2491A>G	ENSP00000352035.2:p.Arg831Gly
ENST00000360480.7:c.2407A>G	ENSP00000353668.3:p.Arg803Gly
ENST00000370224.5:c.2241+274A>G	ENSP00000359244.2:n.2241+274A>G
ENST00000625514.2:c.2205+274A>G	ENSP00000486040.1:n.2205+274A>G
ENST00000626839.2:c.2437A>G	ENSP00000486706.1:p.Arg813Gly
ENST00000629241.2:c.2133+274A>G	ENSP00000487142.1:n.2133+274A>G
ENST00000629676.2:c.1680-5929A>G	ENSP00000486194.1:n.1680-5929A>G
NM_004518.4:c.2407A>G	NP_004509.2:p.Arg803Gly
NM_172106.1:c.2437A>G	NP_742104.1:p.Arg813Gly
NM_172107.2:c.2491A>G	NP_742105.1:p.Arg831Gly
NM_172108.3:c.2398A>G	NP_742106.1:p.Arg800Gly
XM_006723787.1:c.2533A>G	XP_006723850.1:p.Arg845Gly
XM_011528807.1:c.2599A>G	XP_011527109.1:p.Arg867Gly
XM_011528808.1:c.2596A>G	XP_011527110.1:p.Arg866Gly
XM_011528809.1:c.2569A>G	XP_011527111.1:p.Arg857Gly
XM_011528810.1:c.2545A>G	XP_011527112.1:p.Arg849Gly
XM_011528811.1:c.2515A>G	XP_011527113.1:p.Arg839Gly
XM_011528812.1:c.2488A>G	XP_011527114.1:p.Arg830Gly
XM_011528813.1:c.2473A>G	XP_011527115.1:p.Arg825Gly
XM_011528814.1:c.2080A>G	XP_011527116.1:p.Arg694Gly
NM_004518.5:c.2407A>G	NP_004509.2:p.Arg803Gly
NM_172106.2:c.2437A>G	NP_742104.1:p.Arg813Gly
NM_172107.3:c.2491A>G	NP_742105.1:p.Arg831Gly
NM_172108.4:c.2398A>G	NP_742106.1:p.Arg800Gly
XM_011528810.2:c.2545A>G	XP_011527112.1:p.Arg849Gly
XM_011528811.2:c.2515A>G	XP_011527113.1:p.Arg839Gly
XM_017027841.2:c.2542A>G	XP_016883330.1:p.Arg848Gly
XM_017027842.2:c.2479A>G	XP_016883331.1:p.Arg827Gly
XM_017027843.1:c.2476A>G	XP_016883332.1:p.Arg826Gly
XM_017027844.2:c.2434A>G	XP_016883333.1:p.Arg812Gly
XM_017027845.1:c.1507A>G	XP_016883334.1:p.Arg503Gly
NM_004518.6:c.2407A>G	NP_004509.2:p.Arg803Gly
NM_172106.3:c.2437A>G	NP_742104.1:p.Arg813Gly
NM_172107.4:c.2491A>G MANE Select	NP_742105.1:p.Arg831Gly
NM_172108.5:c.2398A>G	NP_742106.1:p.Arg800Gly
NM_001382235.1:c.2545A>G	NP_001369164.1:p.Arg849Gly