Canonical Allele Identifier: CA409638795

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038459C>G (hg19) ; chr20:g.63407106C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407106C>G , CM000682.2:g.63407106C>G	GRCh38
NC_000020.10:g.62038459C>G , CM000682.1:g.62038459C>G	GRCh37
NC_000020.9:g.61508903C>G	NCBI36
NG_009004.1:g.70535G>C
NG_009004.2:g.70535G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2211G>C	ENSP00000516702.1:p.Gln737His
ENST00000359125.7:c.2157G>C MANE Select	ENSP00000352035.2:p.Gln719His
ENST00000637193.1:c.1554G>C	ENSP00000490734.1:p.Gln518His
ENST00000344462.8:c.2064G>C	ENSP00000339611.4:p.Gln688His
ENST00000357249.6:c.1725G>C	ENSP00000349789.3:p.Gln575His
ENST00000359125.6:c.2157G>C	ENSP00000352035.2:p.Gln719His
ENST00000360480.7:c.2073G>C	ENSP00000353668.3:p.Gln691His
ENST00000370224.5:c.2181G>C	ENSP00000359244.2:p.Gln727His
ENST00000625514.2:c.2145G>C	ENSP00000486040.1:p.Gln715His
ENST00000626839.2:c.2103G>C	ENSP00000486706.1:p.Gln701His
ENST00000629241.2:c.2073G>C	ENSP00000487142.1:p.Gln691His
ENST00000629676.2:c.1680-6263G>C	ENSP00000486194.1:n.1680-6263G>C
NM_004518.4:c.2073G>C	NP_004509.2:p.Gln691His
NM_172106.1:c.2103G>C	NP_742104.1:p.Gln701His
NM_172107.2:c.2157G>C	NP_742105.1:p.Gln719His
NM_172108.3:c.2064G>C	NP_742106.1:p.Gln688His
XM_006723787.1:c.2199G>C	XP_006723850.1:p.Gln733His
XM_011528807.1:c.2265G>C	XP_011527109.1:p.Gln755His
XM_011528808.1:c.2262G>C	XP_011527110.1:p.Gln754His
XM_011528809.1:c.2235G>C	XP_011527111.1:p.Gln745His
XM_011528810.1:c.2211G>C	XP_011527112.1:p.Gln737His
XM_011528811.1:c.2181G>C	XP_011527113.1:p.Gln727His
XM_011528812.1:c.2154G>C	XP_011527114.1:p.Gln718His
XM_011528813.1:c.2139G>C	XP_011527115.1:p.Gln713His
XM_011528814.1:c.1746G>C	XP_011527116.1:p.Gln582His
NM_004518.5:c.2073G>C	NP_004509.2:p.Gln691His
NM_172106.2:c.2103G>C	NP_742104.1:p.Gln701His
NM_172107.3:c.2157G>C	NP_742105.1:p.Gln719His
NM_172108.4:c.2064G>C	NP_742106.1:p.Gln688His
XM_011528810.2:c.2211G>C	XP_011527112.1:p.Gln737His
XM_011528811.2:c.2181G>C	XP_011527113.1:p.Gln727His
XM_017027841.2:c.2208G>C	XP_016883330.1:p.Gln736His
XM_017027842.2:c.2145G>C	XP_016883331.1:p.Gln715His
XM_017027843.1:c.2142G>C	XP_016883332.1:p.Gln714His
XM_017027844.2:c.2100G>C	XP_016883333.1:p.Gln700His
XM_017027845.1:c.1173G>C	XP_016883334.1:p.Gln391His
NM_004518.6:c.2073G>C	NP_004509.2:p.Gln691His
NM_172106.3:c.2103G>C	NP_742104.1:p.Gln701His
NM_172107.4:c.2157G>C MANE Select	NP_742105.1:p.Gln719His
NM_172108.5:c.2064G>C	NP_742106.1:p.Gln688His
NM_001382235.1:c.2211G>C	NP_001369164.1:p.Gln737His