Canonical Allele Identifier: CA409636475

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 1719135
• ClinVar RCV Id: RCV002301895
• MyVariant Identifiers: chr20:g.62038038C>G (hg19) ; chr20:g.63406685C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406685C>G , CM000682.2:g.63406685C>G	GRCh38
NC_000020.10:g.62038038C>G , CM000682.1:g.62038038C>G	GRCh37
NC_000020.9:g.61508482C>G	NCBI36
NG_009004.1:g.70956G>C
NG_009004.2:g.70956G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2632G>C	ENSP00000516702.1:p.Gly878Arg
ENST00000359125.7:c.2578G>C MANE Select	ENSP00000352035.2:p.Gly860Arg
ENST00000637193.1:c.1975G>C	ENSP00000490734.1:p.Gly659Arg
ENST00000344462.8:c.2485G>C	ENSP00000339611.4:p.Gly829Arg
ENST00000357249.6:c.2146G>C	ENSP00000349789.3:p.Gly716Arg
ENST00000359125.6:c.2578G>C	ENSP00000352035.2:p.Gly860Arg
ENST00000360480.7:c.2494G>C	ENSP00000353668.3:p.Gly832Arg
ENST00000370224.5:c.2241+361G>C	ENSP00000359244.2:n.2241+361G>C
ENST00000625514.2:c.2205+361G>C	ENSP00000486040.1:n.2205+361G>C
ENST00000626839.2:c.2524G>C	ENSP00000486706.1:p.Gly842Arg
ENST00000629241.2:c.2133+361G>C	ENSP00000487142.1:n.2133+361G>C
ENST00000629676.2:c.1680-5842G>C	ENSP00000486194.1:n.1680-5842G>C
NM_004518.4:c.2494G>C	NP_004509.2:p.Gly832Arg
NM_172106.1:c.2524G>C	NP_742104.1:p.Gly842Arg
NM_172107.2:c.2578G>C	NP_742105.1:p.Gly860Arg
NM_172108.3:c.2485G>C	NP_742106.1:p.Gly829Arg
XM_006723787.1:c.2620G>C	XP_006723850.1:p.Gly874Arg
XM_011528807.1:c.2686G>C	XP_011527109.1:p.Gly896Arg
XM_011528808.1:c.2683G>C	XP_011527110.1:p.Gly895Arg
XM_011528809.1:c.2656G>C	XP_011527111.1:p.Gly886Arg
XM_011528810.1:c.2632G>C	XP_011527112.1:p.Gly878Arg
XM_011528811.1:c.2602G>C	XP_011527113.1:p.Gly868Arg
XM_011528812.1:c.2575G>C	XP_011527114.1:p.Gly859Arg
XM_011528813.1:c.2560G>C	XP_011527115.1:p.Gly854Arg
XM_011528814.1:c.2167G>C	XP_011527116.1:p.Gly723Arg
NM_004518.5:c.2494G>C	NP_004509.2:p.Gly832Arg
NM_172106.2:c.2524G>C	NP_742104.1:p.Gly842Arg
NM_172107.3:c.2578G>C	NP_742105.1:p.Gly860Arg
NM_172108.4:c.2485G>C	NP_742106.1:p.Gly829Arg
XM_011528810.2:c.2632G>C	XP_011527112.1:p.Gly878Arg
XM_011528811.2:c.2602G>C	XP_011527113.1:p.Gly868Arg
XM_017027841.2:c.2629G>C	XP_016883330.1:p.Gly877Arg
XM_017027842.2:c.2566G>C	XP_016883331.1:p.Gly856Arg
XM_017027843.1:c.2563G>C	XP_016883332.1:p.Gly855Arg
XM_017027844.2:c.2521G>C	XP_016883333.1:p.Gly841Arg
XM_017027845.1:c.1594G>C	XP_016883334.1:p.Gly532Arg
NM_004518.6:c.2494G>C	NP_004509.2:p.Gly832Arg
NM_172106.3:c.2524G>C	NP_742104.1:p.Gly842Arg
NM_172107.4:c.2578G>C MANE Select	NP_742105.1:p.Gly860Arg
NM_172108.5:c.2485G>C	NP_742106.1:p.Gly829Arg
NM_001382235.1:c.2632G>C	NP_001369164.1:p.Gly878Arg