Canonical Allele Identifier: CA409638066

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038338G>T (hg19) ; chr20:g.63406985G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406985G>T , CM000682.2:g.63406985G>T	GRCh38
NC_000020.10:g.62038338G>T , CM000682.1:g.62038338G>T	GRCh37
NC_000020.9:g.61508782G>T	NCBI36
NG_009004.1:g.70656C>A
NG_009004.2:g.70656C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2332C>A	ENSP00000516702.1:p.Arg778Ser
ENST00000359125.7:c.2278C>A MANE Select	ENSP00000352035.2:p.Arg760Ser
ENST00000637193.1:c.1675C>A	ENSP00000490734.1:p.Arg559Ser
ENST00000344462.8:c.2185C>A	ENSP00000339611.4:p.Arg729Ser
ENST00000357249.6:c.1846C>A	ENSP00000349789.3:p.Arg616Ser
ENST00000359125.6:c.2278C>A	ENSP00000352035.2:p.Arg760Ser
ENST00000360480.7:c.2194C>A	ENSP00000353668.3:p.Arg732Ser
ENST00000370224.5:c.2241+61C>A	ENSP00000359244.2:n.2241+61C>A
ENST00000625514.2:c.2205+61C>A	ENSP00000486040.1:n.2205+61C>A
ENST00000626839.2:c.2224C>A	ENSP00000486706.1:p.Arg742Ser
ENST00000629241.2:c.2133+61C>A	ENSP00000487142.1:n.2133+61C>A
ENST00000629676.2:c.1680-6142C>A	ENSP00000486194.1:n.1680-6142C>A
NM_004518.4:c.2194C>A	NP_004509.2:p.Arg732Ser
NM_172106.1:c.2224C>A	NP_742104.1:p.Arg742Ser
NM_172107.2:c.2278C>A	NP_742105.1:p.Arg760Ser
NM_172108.3:c.2185C>A	NP_742106.1:p.Arg729Ser
XM_006723787.1:c.2320C>A	XP_006723850.1:p.Arg774Ser
XM_011528807.1:c.2386C>A	XP_011527109.1:p.Arg796Ser
XM_011528808.1:c.2383C>A	XP_011527110.1:p.Arg795Ser
XM_011528809.1:c.2356C>A	XP_011527111.1:p.Arg786Ser
XM_011528810.1:c.2332C>A	XP_011527112.1:p.Arg778Ser
XM_011528811.1:c.2302C>A	XP_011527113.1:p.Arg768Ser
XM_011528812.1:c.2275C>A	XP_011527114.1:p.Arg759Ser
XM_011528813.1:c.2260C>A	XP_011527115.1:p.Arg754Ser
XM_011528814.1:c.1867C>A	XP_011527116.1:p.Arg623Ser
NM_004518.5:c.2194C>A	NP_004509.2:p.Arg732Ser
NM_172106.2:c.2224C>A	NP_742104.1:p.Arg742Ser
NM_172107.3:c.2278C>A	NP_742105.1:p.Arg760Ser
NM_172108.4:c.2185C>A	NP_742106.1:p.Arg729Ser
XM_011528810.2:c.2332C>A	XP_011527112.1:p.Arg778Ser
XM_011528811.2:c.2302C>A	XP_011527113.1:p.Arg768Ser
XM_017027841.2:c.2329C>A	XP_016883330.1:p.Arg777Ser
XM_017027842.2:c.2266C>A	XP_016883331.1:p.Arg756Ser
XM_017027843.1:c.2263C>A	XP_016883332.1:p.Arg755Ser
XM_017027844.2:c.2221C>A	XP_016883333.1:p.Arg741Ser
XM_017027845.1:c.1294C>A	XP_016883334.1:p.Arg432Ser
NM_004518.6:c.2194C>A	NP_004509.2:p.Arg732Ser
NM_172106.3:c.2224C>A	NP_742104.1:p.Arg742Ser
NM_172107.4:c.2278C>A MANE Select	NP_742105.1:p.Arg760Ser
NM_172108.5:c.2185C>A	NP_742106.1:p.Arg729Ser
NM_001382235.1:c.2332C>A	NP_001369164.1:p.Arg778Ser