Canonical Allele Identifier: CA409636393

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 2672259
• ClinVar RCV Id: RCV003456329
• dbSNP Id: rs1601541348
• COSMIC: COSM4694631 ; COSM4694632 ; COSM4694633
• MyVariant Identifiers: chr20:g.62038017A>G (hg19) ; chr20:g.63406664A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406664A>G , CM000682.2:g.63406664A>G	GRCh38
NC_000020.10:g.62038017A>G , CM000682.1:g.62038017A>G	GRCh37
NC_000020.9:g.61508461A>G	NCBI36
NG_009004.1:g.70977T>C
NG_009004.2:g.70977T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2653T>C	ENSP00000516702.1:p.Trp885Arg
ENST00000359125.7:c.2599T>C MANE Select	ENSP00000352035.2:p.Trp867Arg
ENST00000637193.1:c.1996T>C	ENSP00000490734.1:p.Trp666Arg
ENST00000344462.8:c.2506T>C	ENSP00000339611.4:p.Trp836Arg
ENST00000357249.6:c.2167T>C	ENSP00000349789.3:p.Trp723Arg
ENST00000359125.6:c.2599T>C	ENSP00000352035.2:p.Trp867Arg
ENST00000360480.7:c.2515T>C	ENSP00000353668.3:p.Trp839Arg
ENST00000370224.5:c.2241+382T>C	ENSP00000359244.2:n.2241+382T>C
ENST00000625514.2:c.2205+382T>C	ENSP00000486040.1:n.2205+382T>C
ENST00000626839.2:c.2545T>C	ENSP00000486706.1:p.Trp849Arg
ENST00000629241.2:c.2133+382T>C	ENSP00000487142.1:n.2133+382T>C
ENST00000629676.2:c.1680-5821T>C	ENSP00000486194.1:n.1680-5821T>C
NM_004518.4:c.2515T>C	NP_004509.2:p.Trp839Arg
NM_172106.1:c.2545T>C	NP_742104.1:p.Trp849Arg
NM_172107.2:c.2599T>C	NP_742105.1:p.Trp867Arg
NM_172108.3:c.2506T>C	NP_742106.1:p.Trp836Arg
XM_006723787.1:c.2641T>C	XP_006723850.1:p.Trp881Arg
XM_011528807.1:c.2707T>C	XP_011527109.1:p.Trp903Arg
XM_011528808.1:c.2704T>C	XP_011527110.1:p.Trp902Arg
XM_011528809.1:c.2677T>C	XP_011527111.1:p.Trp893Arg
XM_011528810.1:c.2653T>C	XP_011527112.1:p.Trp885Arg
XM_011528811.1:c.2623T>C	XP_011527113.1:p.Trp875Arg
XM_011528812.1:c.2596T>C	XP_011527114.1:p.Trp866Arg
XM_011528813.1:c.2581T>C	XP_011527115.1:p.Trp861Arg
XM_011528814.1:c.2188T>C	XP_011527116.1:p.Trp730Arg
NM_004518.5:c.2515T>C	NP_004509.2:p.Trp839Arg
NM_172106.2:c.2545T>C	NP_742104.1:p.Trp849Arg
NM_172107.3:c.2599T>C	NP_742105.1:p.Trp867Arg
NM_172108.4:c.2506T>C	NP_742106.1:p.Trp836Arg
XM_011528810.2:c.2653T>C	XP_011527112.1:p.Trp885Arg
XM_011528811.2:c.2623T>C	XP_011527113.1:p.Trp875Arg
XM_017027841.2:c.2650T>C	XP_016883330.1:p.Trp884Arg
XM_017027842.2:c.2587T>C	XP_016883331.1:p.Trp863Arg
XM_017027843.1:c.2584T>C	XP_016883332.1:p.Trp862Arg
XM_017027844.2:c.2542T>C	XP_016883333.1:p.Trp848Arg
XM_017027845.1:c.1615T>C	XP_016883334.1:p.Trp539Arg
NM_004518.6:c.2515T>C	NP_004509.2:p.Trp839Arg
NM_172106.3:c.2545T>C	NP_742104.1:p.Trp849Arg
NM_172107.4:c.2599T>C MANE Select	NP_742105.1:p.Trp867Arg
NM_172108.5:c.2506T>C	NP_742106.1:p.Trp836Arg
NM_001382235.1:c.2653T>C	NP_001369164.1:p.Trp885Arg