Canonical Allele Identifier: CA090956

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406691C>T , CM000682.2:g.63406691C>T	GRCh38
NC_000020.10:g.62038044C>T , CM000682.1:g.62038044C>T	GRCh37
NC_000020.9:g.61508488C>T	NCBI36
NG_009004.1:g.70950G>A
NG_009004.2:g.70950G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2626G>A	ENSP00000516702.1:p.Gly876Ser
ENST00000359125.7:c.2572G>A MANE Select	ENSP00000352035.2:p.Gly858Ser
ENST00000637193.1:c.1969G>A	ENSP00000490734.1:p.Gly657Ser
ENST00000344462.8:c.2479G>A	ENSP00000339611.4:p.Gly827Ser
ENST00000357249.6:c.2140G>A	ENSP00000349789.3:p.Gly714Ser
ENST00000359125.6:c.2572G>A	ENSP00000352035.2:p.Gly858Ser
ENST00000360480.7:c.2488G>A	ENSP00000353668.3:p.Gly830Ser
ENST00000370224.5:c.2241+355G>A	ENSP00000359244.2:n.2241+355G>A
ENST00000625514.2:c.2205+355G>A	ENSP00000486040.1:n.2205+355G>A
ENST00000626839.2:c.2518G>A	ENSP00000486706.1:p.Gly840Ser
ENST00000629241.2:c.2133+355G>A	ENSP00000487142.1:n.2133+355G>A
ENST00000629676.2:c.1680-5848G>A	ENSP00000486194.1:n.1680-5848G>A
NM_004518.4:c.2488G>A	NP_004509.2:p.Gly830Ser
NM_172106.1:c.2518G>A	NP_742104.1:p.Gly840Ser
NM_172107.2:c.2572G>A	NP_742105.1:p.Gly858Ser
NM_172108.3:c.2479G>A	NP_742106.1:p.Gly827Ser
XM_006723787.1:c.2614G>A	XP_006723850.1:p.Gly872Ser
XM_011528807.1:c.2680G>A	XP_011527109.1:p.Gly894Ser
XM_011528808.1:c.2677G>A	XP_011527110.1:p.Gly893Ser
XM_011528809.1:c.2650G>A	XP_011527111.1:p.Gly884Ser
XM_011528810.1:c.2626G>A	XP_011527112.1:p.Gly876Ser
XM_011528811.1:c.2596G>A	XP_011527113.1:p.Gly866Ser
XM_011528812.1:c.2569G>A	XP_011527114.1:p.Gly857Ser
XM_011528813.1:c.2554G>A	XP_011527115.1:p.Gly852Ser
XM_011528814.1:c.2161G>A	XP_011527116.1:p.Gly721Ser
NM_004518.5:c.2488G>A	NP_004509.2:p.Gly830Ser
NM_172106.2:c.2518G>A	NP_742104.1:p.Gly840Ser
NM_172107.3:c.2572G>A	NP_742105.1:p.Gly858Ser
NM_172108.4:c.2479G>A	NP_742106.1:p.Gly827Ser
XM_011528810.2:c.2626G>A	XP_011527112.1:p.Gly876Ser
XM_011528811.2:c.2596G>A	XP_011527113.1:p.Gly866Ser
XM_017027841.2:c.2623G>A	XP_016883330.1:p.Gly875Ser
XM_017027842.2:c.2560G>A	XP_016883331.1:p.Gly854Ser
XM_017027843.1:c.2557G>A	XP_016883332.1:p.Gly853Ser
XM_017027844.2:c.2515G>A	XP_016883333.1:p.Gly839Ser
XM_017027845.1:c.1588G>A	XP_016883334.1:p.Gly530Ser
NM_004518.6:c.2488G>A	NP_004509.2:p.Gly830Ser
NM_172106.3:c.2518G>A	NP_742104.1:p.Gly840Ser
NM_172107.4:c.2572G>A MANE Select	NP_742105.1:p.Gly858Ser
NM_172108.5:c.2479G>A	NP_742106.1:p.Gly827Ser
NM_001382235.1:c.2626G>A	NP_001369164.1:p.Gly876Ser