Canonical Allele Identifier: CA511339417

Gene: KCNQ2

Linked Data

• dbSNP Id: rs2079952975
• COSMIC: COSM5803321 ; COSM5803322 ; COSM5803323
• MyVariant Identifiers: chr20:g.62038210G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406857G>A , CM000682.2:g.63406857G>A	GRCh38
NC_000020.10:g.62038210G>A , CM000682.1:g.62038210G>A	GRCh37
NC_000020.9:g.61508654G>A	NCBI36
NG_009004.1:g.70784C>T
NG_009004.2:g.70784C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2460C>T	ENSP00000516702.1:p.Phe820=
ENST00000359125.7:c.2406C>T MANE Select	ENSP00000352035.2:p.Phe802=
ENST00000637193.1:c.1803C>T	ENSP00000490734.1:p.Phe601=
ENST00000344462.8:c.2313C>T	ENSP00000339611.4:p.Phe771=
ENST00000357249.6:c.1974C>T	ENSP00000349789.3:p.Phe658=
ENST00000359125.6:c.2406C>T	ENSP00000352035.2:p.Phe802=
ENST00000360480.7:c.2322C>T	ENSP00000353668.3:p.Phe774=
ENST00000370224.5:c.2241+189C>T	ENSP00000359244.2:n.2241+189C>T
ENST00000625514.2:c.2205+189C>T	ENSP00000486040.1:n.2205+189C>T
ENST00000626839.2:c.2352C>T	ENSP00000486706.1:p.Phe784=
ENST00000629241.2:c.2133+189C>T	ENSP00000487142.1:n.2133+189C>T
ENST00000629676.2:c.1680-6014C>T	ENSP00000486194.1:n.1680-6014C>T
NM_004518.4:c.2322C>T	NP_004509.2:p.Phe774=
NM_172106.1:c.2352C>T	NP_742104.1:p.Phe784=
NM_172107.2:c.2406C>T	NP_742105.1:p.Phe802=
NM_172108.3:c.2313C>T	NP_742106.1:p.Phe771=
XM_006723787.1:c.2448C>T	XP_006723850.1:p.Phe816=
XM_011528807.1:c.2514C>T	XP_011527109.1:p.Phe838=
XM_011528808.1:c.2511C>T	XP_011527110.1:p.Phe837=
XM_011528809.1:c.2484C>T	XP_011527111.1:p.Phe828=
XM_011528810.1:c.2460C>T	XP_011527112.1:p.Phe820=
XM_011528811.1:c.2430C>T	XP_011527113.1:p.Phe810=
XM_011528812.1:c.2403C>T	XP_011527114.1:p.Phe801=
XM_011528813.1:c.2388C>T	XP_011527115.1:p.Phe796=
XM_011528814.1:c.1995C>T	XP_011527116.1:p.Phe665=
NM_004518.5:c.2322C>T	NP_004509.2:p.Phe774=
NM_172106.2:c.2352C>T	NP_742104.1:p.Phe784=
NM_172107.3:c.2406C>T	NP_742105.1:p.Phe802=
NM_172108.4:c.2313C>T	NP_742106.1:p.Phe771=
XM_011528810.2:c.2460C>T	XP_011527112.1:p.Phe820=
XM_011528811.2:c.2430C>T	XP_011527113.1:p.Phe810=
XM_017027841.2:c.2457C>T	XP_016883330.1:p.Phe819=
XM_017027842.2:c.2394C>T	XP_016883331.1:p.Phe798=
XM_017027843.1:c.2391C>T	XP_016883332.1:p.Phe797=
XM_017027844.2:c.2349C>T	XP_016883333.1:p.Phe783=
XM_017027845.1:c.1422C>T	XP_016883334.1:p.Phe474=
NM_004518.6:c.2322C>T	NP_004509.2:p.Phe774=
NM_172106.3:c.2352C>T	NP_742104.1:p.Phe784=
NM_172107.4:c.2406C>T MANE Select	NP_742105.1:p.Phe802=
NM_172108.5:c.2313C>T	NP_742106.1:p.Phe771=
NM_001382235.1:c.2460C>T	NP_001369164.1:p.Phe820=