Canonical Allele Identifier: CA409637117

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038187G>C (hg19) ; chr20:g.63406834G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406834G>C , CM000682.2:g.63406834G>C	GRCh38
NC_000020.10:g.62038187G>C , CM000682.1:g.62038187G>C	GRCh37
NC_000020.9:g.61508631G>C	NCBI36
NG_009004.1:g.70807C>G
NG_009004.2:g.70807C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2483C>G	ENSP00000516702.1:p.Ser828Cys
ENST00000359125.7:c.2429C>G MANE Select	ENSP00000352035.2:p.Ser810Cys
ENST00000637193.1:c.1826C>G	ENSP00000490734.1:p.Ser609Cys
ENST00000344462.8:c.2336C>G	ENSP00000339611.4:p.Ser779Cys
ENST00000357249.6:c.1997C>G	ENSP00000349789.3:p.Ser666Cys
ENST00000359125.6:c.2429C>G	ENSP00000352035.2:p.Ser810Cys
ENST00000360480.7:c.2345C>G	ENSP00000353668.3:p.Ser782Cys
ENST00000370224.5:c.2241+212C>G	ENSP00000359244.2:n.2241+212C>G
ENST00000625514.2:c.2205+212C>G	ENSP00000486040.1:n.2205+212C>G
ENST00000626839.2:c.2375C>G	ENSP00000486706.1:p.Ser792Cys
ENST00000629241.2:c.2133+212C>G	ENSP00000487142.1:n.2133+212C>G
ENST00000629676.2:c.1680-5991C>G	ENSP00000486194.1:n.1680-5991C>G
NM_004518.4:c.2345C>G	NP_004509.2:p.Ser782Cys
NM_172106.1:c.2375C>G	NP_742104.1:p.Ser792Cys
NM_172107.2:c.2429C>G	NP_742105.1:p.Ser810Cys
NM_172108.3:c.2336C>G	NP_742106.1:p.Ser779Cys
XM_006723787.1:c.2471C>G	XP_006723850.1:p.Ser824Cys
XM_011528807.1:c.2537C>G	XP_011527109.1:p.Ser846Cys
XM_011528808.1:c.2534C>G	XP_011527110.1:p.Ser845Cys
XM_011528809.1:c.2507C>G	XP_011527111.1:p.Ser836Cys
XM_011528810.1:c.2483C>G	XP_011527112.1:p.Ser828Cys
XM_011528811.1:c.2453C>G	XP_011527113.1:p.Ser818Cys
XM_011528812.1:c.2426C>G	XP_011527114.1:p.Ser809Cys
XM_011528813.1:c.2411C>G	XP_011527115.1:p.Ser804Cys
XM_011528814.1:c.2018C>G	XP_011527116.1:p.Ser673Cys
NM_004518.5:c.2345C>G	NP_004509.2:p.Ser782Cys
NM_172106.2:c.2375C>G	NP_742104.1:p.Ser792Cys
NM_172107.3:c.2429C>G	NP_742105.1:p.Ser810Cys
NM_172108.4:c.2336C>G	NP_742106.1:p.Ser779Cys
XM_011528810.2:c.2483C>G	XP_011527112.1:p.Ser828Cys
XM_011528811.2:c.2453C>G	XP_011527113.1:p.Ser818Cys
XM_017027841.2:c.2480C>G	XP_016883330.1:p.Ser827Cys
XM_017027842.2:c.2417C>G	XP_016883331.1:p.Ser806Cys
XM_017027843.1:c.2414C>G	XP_016883332.1:p.Ser805Cys
XM_017027844.2:c.2372C>G	XP_016883333.1:p.Ser791Cys
XM_017027845.1:c.1445C>G	XP_016883334.1:p.Ser482Cys
NM_004518.6:c.2345C>G	NP_004509.2:p.Ser782Cys
NM_172106.3:c.2375C>G	NP_742104.1:p.Ser792Cys
NM_172107.4:c.2429C>G MANE Select	NP_742105.1:p.Ser810Cys
NM_172108.5:c.2336C>G	NP_742106.1:p.Ser779Cys
NM_001382235.1:c.2483C>G	NP_001369164.1:p.Ser828Cys