Canonical Allele Identifier: CA511339615

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63414913-C-T
• MyVariant Identifiers: chr20:g.62046266C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414913C>T , CM000682.2:g.63414913C>T	GRCh38
NC_000020.10:g.62046266C>T , CM000682.1:g.62046266C>T	GRCh37
NC_000020.9:g.61516710C>T	NCBI36
NG_009004.1:g.62728G>A
NG_009004.2:g.62728G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1461G>A	ENSP00000516702.1:p.Gln487=
ENST00000359125.7:c.1515G>A MANE Select	ENSP00000352035.2:p.Gln505=
ENST00000637193.1:c.912G>A	ENSP00000490734.1:p.Gln304=
ENST00000344462.8:c.1425G>A	ENSP00000339611.4:p.Gln475=
ENST00000357249.6:c.1083G>A	ENSP00000349789.3:p.Gln361=
ENST00000359125.6:c.1515G>A	ENSP00000352035.2:p.Gln505=
ENST00000360480.7:c.1431G>A	ENSP00000353668.3:p.Gln477=
ENST00000370224.5:c.1431G>A	ENSP00000359244.2:p.Gln477=
ENST00000625514.2:c.1395G>A	ENSP00000486040.1:p.Gln465=
ENST00000626839.2:c.1461G>A	ENSP00000486706.1:p.Gln487=
ENST00000627221.2:c.575G>A
ENST00000629241.2:c.1431G>A	ENSP00000487142.1:p.Gln477=
ENST00000629318.1:c.123G>A	ENSP00000487384.1:p.Gln41=
ENST00000629676.2:c.1431G>A	ENSP00000486194.1:p.Gln477=
NM_004518.4:c.1431G>A	NP_004509.2:p.Gln477=
NM_172106.1:c.1461G>A	NP_742104.1:p.Gln487=
NM_172107.2:c.1515G>A	NP_742105.1:p.Gln505=
NM_172108.3:c.1425G>A	NP_742106.1:p.Gln475=
XM_006723787.1:c.1515G>A	XP_006723850.1:p.Gln505=
XM_011528807.1:c.1515G>A	XP_011527109.1:p.Gln505=
XM_011528808.1:c.1515G>A	XP_011527110.1:p.Gln505=
XM_011528809.1:c.1485G>A	XP_011527111.1:p.Gln495=
XM_011528810.1:c.1461G>A	XP_011527112.1:p.Gln487=
XM_011528811.1:c.1431G>A	XP_011527113.1:p.Gln477=
XM_011528812.1:c.1515G>A	XP_011527114.1:p.Gln505=
XM_011528813.1:c.1389G>A	XP_011527115.1:p.Gln463=
XM_011528814.1:c.996G>A	XP_011527116.1:p.Gln332=
XM_011528815.1:c.1515G>A	XP_011527117.1:p.Gln505=
NM_004518.5:c.1431G>A	NP_004509.2:p.Gln477=
NM_172106.2:c.1461G>A	NP_742104.1:p.Gln487=
NM_172107.3:c.1515G>A	NP_742105.1:p.Gln505=
NM_172108.4:c.1425G>A	NP_742106.1:p.Gln475=
XM_011528810.2:c.1461G>A	XP_011527112.1:p.Gln487=
XM_011528811.2:c.1431G>A	XP_011527113.1:p.Gln477=
XM_017027841.2:c.1461G>A	XP_016883330.1:p.Gln487=
XM_017027842.2:c.1461G>A	XP_016883331.1:p.Gln487=
XM_017027843.1:c.1392G>A	XP_016883332.1:p.Gln464=
XM_017027844.2:c.1461G>A	XP_016883333.1:p.Gln487=
XM_017027845.1:c.423G>A	XP_016883334.1:p.Gln141=
NM_004518.6:c.1431G>A	NP_004509.2:p.Gln477=
NM_172106.3:c.1461G>A	NP_742104.1:p.Gln487=
NM_172107.4:c.1515G>A MANE Select	NP_742105.1:p.Gln505=
NM_172108.5:c.1425G>A	NP_742106.1:p.Gln475=
NM_001382235.1:c.1461G>A	NP_001369164.1:p.Gln487=