Canonical Allele Identifier: CA511339310

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406940-T-G
• MyVariant Identifiers: chr20:g.62038293T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406940T>G , CM000682.2:g.63406940T>G	GRCh38
NC_000020.10:g.62038293T>G , CM000682.1:g.62038293T>G	GRCh37
NC_000020.9:g.61508737T>G	NCBI36
NG_009004.1:g.70701A>C
NG_009004.2:g.70701A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2377A>C	ENSP00000516702.1:p.Arg793=
ENST00000359125.7:c.2323A>C MANE Select	ENSP00000352035.2:p.Arg775=
ENST00000637193.1:c.1720A>C	ENSP00000490734.1:p.Arg574=
ENST00000344462.8:c.2230A>C	ENSP00000339611.4:p.Arg744=
ENST00000357249.6:c.1891A>C	ENSP00000349789.3:p.Arg631=
ENST00000359125.6:c.2323A>C	ENSP00000352035.2:p.Arg775=
ENST00000360480.7:c.2239A>C	ENSP00000353668.3:p.Arg747=
ENST00000370224.5:c.2241+106A>C	ENSP00000359244.2:n.2241+106A>C
ENST00000625514.2:c.2205+106A>C	ENSP00000486040.1:n.2205+106A>C
ENST00000626839.2:c.2269A>C	ENSP00000486706.1:p.Arg757=
ENST00000629241.2:c.2133+106A>C	ENSP00000487142.1:n.2133+106A>C
ENST00000629676.2:c.1680-6097A>C	ENSP00000486194.1:n.1680-6097A>C
NM_004518.4:c.2239A>C	NP_004509.2:p.Arg747=
NM_172106.1:c.2269A>C	NP_742104.1:p.Arg757=
NM_172107.2:c.2323A>C	NP_742105.1:p.Arg775=
NM_172108.3:c.2230A>C	NP_742106.1:p.Arg744=
XM_006723787.1:c.2365A>C	XP_006723850.1:p.Arg789=
XM_011528807.1:c.2431A>C	XP_011527109.1:p.Arg811=
XM_011528808.1:c.2428A>C	XP_011527110.1:p.Arg810=
XM_011528809.1:c.2401A>C	XP_011527111.1:p.Arg801=
XM_011528810.1:c.2377A>C	XP_011527112.1:p.Arg793=
XM_011528811.1:c.2347A>C	XP_011527113.1:p.Arg783=
XM_011528812.1:c.2320A>C	XP_011527114.1:p.Arg774=
XM_011528813.1:c.2305A>C	XP_011527115.1:p.Arg769=
XM_011528814.1:c.1912A>C	XP_011527116.1:p.Arg638=
NM_004518.5:c.2239A>C	NP_004509.2:p.Arg747=
NM_172106.2:c.2269A>C	NP_742104.1:p.Arg757=
NM_172107.3:c.2323A>C	NP_742105.1:p.Arg775=
NM_172108.4:c.2230A>C	NP_742106.1:p.Arg744=
XM_011528810.2:c.2377A>C	XP_011527112.1:p.Arg793=
XM_011528811.2:c.2347A>C	XP_011527113.1:p.Arg783=
XM_017027841.2:c.2374A>C	XP_016883330.1:p.Arg792=
XM_017027842.2:c.2311A>C	XP_016883331.1:p.Arg771=
XM_017027843.1:c.2308A>C	XP_016883332.1:p.Arg770=
XM_017027844.2:c.2266A>C	XP_016883333.1:p.Arg756=
XM_017027845.1:c.1339A>C	XP_016883334.1:p.Arg447=
NM_004518.6:c.2239A>C	NP_004509.2:p.Arg747=
NM_172106.3:c.2269A>C	NP_742104.1:p.Arg757=
NM_172107.4:c.2323A>C MANE Select	NP_742105.1:p.Arg775=
NM_172108.5:c.2230A>C	NP_742106.1:p.Arg744=
NM_001382235.1:c.2377A>C	NP_001369164.1:p.Arg793=