Canonical Allele Identifier: CA409639018

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038527C>G (hg19) ; chr20:g.63407174C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407174C>G , CM000682.2:g.63407174C>G	GRCh38
NC_000020.10:g.62038527C>G , CM000682.1:g.62038527C>G	GRCh37
NC_000020.9:g.61508971C>G	NCBI36
NG_009004.1:g.70467G>C
NG_009004.2:g.70467G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2143G>C	ENSP00000516702.1:p.Gly715Arg
ENST00000359125.7:c.2089G>C MANE Select	ENSP00000352035.2:p.Gly697Arg
ENST00000637193.1:c.1486G>C	ENSP00000490734.1:p.Gly496Arg
ENST00000344462.8:c.1996G>C	ENSP00000339611.4:p.Gly666Arg
ENST00000357249.6:c.1657G>C	ENSP00000349789.3:p.Gly553Arg
ENST00000359125.6:c.2089G>C	ENSP00000352035.2:p.Gly697Arg
ENST00000360480.7:c.2005G>C	ENSP00000353668.3:p.Gly669Arg
ENST00000370224.5:c.2113G>C	ENSP00000359244.2:p.Gly705Arg
ENST00000625514.2:c.2077G>C	ENSP00000486040.1:p.Gly693Arg
ENST00000626839.2:c.2035G>C	ENSP00000486706.1:p.Gly679Arg
ENST00000629241.2:c.2005G>C	ENSP00000487142.1:p.Gly669Arg
ENST00000629676.2:c.1679+6276G>C	ENSP00000486194.1:n.1679+6276G>C
NM_004518.4:c.2005G>C	NP_004509.2:p.Gly669Arg
NM_172106.1:c.2035G>C	NP_742104.1:p.Gly679Arg
NM_172107.2:c.2089G>C	NP_742105.1:p.Gly697Arg
NM_172108.3:c.1996G>C	NP_742106.1:p.Gly666Arg
XM_006723787.1:c.2131G>C	XP_006723850.1:p.Gly711Arg
XM_011528807.1:c.2197G>C	XP_011527109.1:p.Gly733Arg
XM_011528808.1:c.2194G>C	XP_011527110.1:p.Gly732Arg
XM_011528809.1:c.2167G>C	XP_011527111.1:p.Gly723Arg
XM_011528810.1:c.2143G>C	XP_011527112.1:p.Gly715Arg
XM_011528811.1:c.2113G>C	XP_011527113.1:p.Gly705Arg
XM_011528812.1:c.2086G>C	XP_011527114.1:p.Gly696Arg
XM_011528813.1:c.2071G>C	XP_011527115.1:p.Gly691Arg
XM_011528814.1:c.1678G>C	XP_011527116.1:p.Gly560Arg
NM_004518.5:c.2005G>C	NP_004509.2:p.Gly669Arg
NM_172106.2:c.2035G>C	NP_742104.1:p.Gly679Arg
NM_172107.3:c.2089G>C	NP_742105.1:p.Gly697Arg
NM_172108.4:c.1996G>C	NP_742106.1:p.Gly666Arg
XM_011528810.2:c.2143G>C	XP_011527112.1:p.Gly715Arg
XM_011528811.2:c.2113G>C	XP_011527113.1:p.Gly705Arg
XM_017027841.2:c.2140G>C	XP_016883330.1:p.Gly714Arg
XM_017027842.2:c.2077G>C	XP_016883331.1:p.Gly693Arg
XM_017027843.1:c.2074G>C	XP_016883332.1:p.Gly692Arg
XM_017027844.2:c.2032G>C	XP_016883333.1:p.Gly678Arg
XM_017027845.1:c.1105G>C	XP_016883334.1:p.Gly369Arg
NM_004518.6:c.2005G>C	NP_004509.2:p.Gly669Arg
NM_172106.3:c.2035G>C	NP_742104.1:p.Gly679Arg
NM_172107.4:c.2089G>C MANE Select	NP_742105.1:p.Gly697Arg
NM_172108.5:c.1996G>C	NP_742106.1:p.Gly666Arg
NM_001382235.1:c.2143G>C	NP_001369164.1:p.Gly715Arg