Canonical Allele Identifier: CA409636847

Gene: KCNQ2

Linked Data

• COSMIC: COSM403409
• MyVariant Identifiers: chr20:g.62038124C>A (hg19) ; chr20:g.63406771C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406771C>A , CM000682.2:g.63406771C>A	GRCh38
NC_000020.10:g.62038124C>A , CM000682.1:g.62038124C>A	GRCh37
NC_000020.9:g.61508568C>A	NCBI36
NG_009004.1:g.70870G>T
NG_009004.2:g.70870G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2546G>T	ENSP00000516702.1:p.Arg849Met
ENST00000359125.7:c.2492G>T MANE Select	ENSP00000352035.2:p.Arg831Met
ENST00000637193.1:c.1889G>T	ENSP00000490734.1:p.Arg630Met
ENST00000344462.8:c.2399G>T	ENSP00000339611.4:p.Arg800Met
ENST00000357249.6:c.2060G>T	ENSP00000349789.3:p.Arg687Met
ENST00000359125.6:c.2492G>T	ENSP00000352035.2:p.Arg831Met
ENST00000360480.7:c.2408G>T	ENSP00000353668.3:p.Arg803Met
ENST00000370224.5:c.2241+275G>T	ENSP00000359244.2:n.2241+275G>T
ENST00000625514.2:c.2205+275G>T	ENSP00000486040.1:n.2205+275G>T
ENST00000626839.2:c.2438G>T	ENSP00000486706.1:p.Arg813Met
ENST00000629241.2:c.2133+275G>T	ENSP00000487142.1:n.2133+275G>T
ENST00000629676.2:c.1680-5928G>T	ENSP00000486194.1:n.1680-5928G>T
NM_004518.4:c.2408G>T	NP_004509.2:p.Arg803Met
NM_172106.1:c.2438G>T	NP_742104.1:p.Arg813Met
NM_172107.2:c.2492G>T	NP_742105.1:p.Arg831Met
NM_172108.3:c.2399G>T	NP_742106.1:p.Arg800Met
XM_006723787.1:c.2534G>T	XP_006723850.1:p.Arg845Met
XM_011528807.1:c.2600G>T	XP_011527109.1:p.Arg867Met
XM_011528808.1:c.2597G>T	XP_011527110.1:p.Arg866Met
XM_011528809.1:c.2570G>T	XP_011527111.1:p.Arg857Met
XM_011528810.1:c.2546G>T	XP_011527112.1:p.Arg849Met
XM_011528811.1:c.2516G>T	XP_011527113.1:p.Arg839Met
XM_011528812.1:c.2489G>T	XP_011527114.1:p.Arg830Met
XM_011528813.1:c.2474G>T	XP_011527115.1:p.Arg825Met
XM_011528814.1:c.2081G>T	XP_011527116.1:p.Arg694Met
NM_004518.5:c.2408G>T	NP_004509.2:p.Arg803Met
NM_172106.2:c.2438G>T	NP_742104.1:p.Arg813Met
NM_172107.3:c.2492G>T	NP_742105.1:p.Arg831Met
NM_172108.4:c.2399G>T	NP_742106.1:p.Arg800Met
XM_011528810.2:c.2546G>T	XP_011527112.1:p.Arg849Met
XM_011528811.2:c.2516G>T	XP_011527113.1:p.Arg839Met
XM_017027841.2:c.2543G>T	XP_016883330.1:p.Arg848Met
XM_017027842.2:c.2480G>T	XP_016883331.1:p.Arg827Met
XM_017027843.1:c.2477G>T	XP_016883332.1:p.Arg826Met
XM_017027844.2:c.2435G>T	XP_016883333.1:p.Arg812Met
XM_017027845.1:c.1508G>T	XP_016883334.1:p.Arg503Met
NM_004518.6:c.2408G>T	NP_004509.2:p.Arg803Met
NM_172106.3:c.2438G>T	NP_742104.1:p.Arg813Met
NM_172107.4:c.2492G>T MANE Select	NP_742105.1:p.Arg831Met
NM_172108.5:c.2399G>T	NP_742106.1:p.Arg800Met
NM_001382235.1:c.2546G>T	NP_001369164.1:p.Arg849Met