Canonical Allele Identifier: CA2374778309

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414136_63414150delinsACAAACTCGCAGGGG , CM000682.2:g.63414136_63414150delinsACAAACTCGCAGGGG	GRCh38
NC_000020.10:g.62045489_62045503delinsACAAACTCGCAGGGG , CM000682.1:g.62045489_62045503delinsACAAACTCGCAGGGG	GRCh37
NC_000020.9:g.61515933_61515947delinsACAAACTCGCAGGGG	NCBI36
NG_009004.1:g.63491_63505delinsCCCCTGCGAGTTTGT
NG_009004.2:g.63491_63505delinsCCCCTGCGAGTTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1515_1529delinsCCCCTGCGAGTTTGT	ENSP00000516702.1:p.Cys505=
ENST00000359125.7:c.1569_1583delinsCCCCTGCGAGTTTGT MANE Select	ENSP00000352035.2:p.Cys523=
ENST00000637193.1:c.966_980delinsCCCCTGCGAGTTTGT	ENSP00000490734.1:p.Cys322=
ENST00000344462.8:c.1476_1490delinsCCCCTGCGAGTTTGT	ENSP00000339611.4:p.Cys492=
ENST00000357249.6:c.1137_1151delinsCCCCTGCGAGTTTGT	ENSP00000349789.3:p.Cys379=
ENST00000359125.6:c.1569_1583delinsCCCCTGCGAGTTTGT	ENSP00000352035.2:p.Cys523=
ENST00000360480.7:c.1485_1499delinsCCCCTGCGAGTTTGT	ENSP00000353668.3:p.Cys495=
ENST00000370224.5:c.1485_1499delinsCCCCTGCGAGTTTGT	ENSP00000359244.2:p.Cys495=
ENST00000625514.2:c.1449_1463delinsCCCCTGCGAGTTTGT	ENSP00000486040.1:p.Cys483=
ENST00000626839.2:c.1515_1529delinsCCCCTGCGAGTTTGT	ENSP00000486706.1:p.Cys505=
ENST00000627221.2:c.626_640delinsCCCCTGCGAGTTTGT
ENST00000629241.2:c.1485_1499delinsCCCCTGCGAGTTTGT	ENSP00000487142.1:p.Cys495=
ENST00000629318.1:c.177_191delinsCCCCTGCGAGTTTGT	ENSP00000487384.1:p.Cys59=
ENST00000629676.2:c.1485_1499delinsCCCCTGCGAGTTTGT	ENSP00000486194.1:p.Cys495=
NM_004518.4:c.1485_1499delinsCCCCTGCGAGTTTGT	NP_004509.2:p.Cys495=
NM_172106.1:c.1515_1529delinsCCCCTGCGAGTTTGT	NP_742104.1:p.Cys505=
NM_172107.2:c.1569_1583delinsCCCCTGCGAGTTTGT	NP_742105.1:p.Cys523=
NM_172108.3:c.1476_1490delinsCCCCTGCGAGTTTGT	NP_742106.1:p.Cys492=
XM_006723787.1:c.1569_1583delinsCCCCTGCGAGTTTGT	XP_006723850.1:p.Cys523=
XM_011528807.1:c.1569_1583delinsCCCCTGCGAGTTTGT	XP_011527109.1:p.Cys523=
XM_011528808.1:c.1566_1580delinsCCCCTGCGAGTTTGT	XP_011527110.1:p.Cys522=
XM_011528809.1:c.1539_1553delinsCCCCTGCGAGTTTGT	XP_011527111.1:p.Cys513=
XM_011528810.1:c.1515_1529delinsCCCCTGCGAGTTTGT	XP_011527112.1:p.Cys505=
XM_011528811.1:c.1485_1499delinsCCCCTGCGAGTTTGT	XP_011527113.1:p.Cys495=
XM_011528812.1:c.1566_1580delinsCCCCTGCGAGTTTGT	XP_011527114.1:p.Cys522=
XM_011528813.1:c.1443_1457delinsCCCCTGCGAGTTTGT	XP_011527115.1:p.Cys481=
XM_011528814.1:c.1050_1064delinsCCCCTGCGAGTTTGT	XP_011527116.1:p.Cys350=
XM_011528815.1:c.1569_1583delinsCCCCTGCGAGTTTGT	XP_011527117.1:p.Cys523=
NM_004518.5:c.1485_1499delinsCCCCTGCGAGTTTGT	NP_004509.2:p.Cys495=
NM_172106.2:c.1515_1529delinsCCCCTGCGAGTTTGT	NP_742104.1:p.Cys505=
NM_172107.3:c.1569_1583delinsCCCCTGCGAGTTTGT	NP_742105.1:p.Cys523=
NM_172108.4:c.1476_1490delinsCCCCTGCGAGTTTGT	NP_742106.1:p.Cys492=
XM_011528810.2:c.1515_1529delinsCCCCTGCGAGTTTGT	XP_011527112.1:p.Cys505=
XM_011528811.2:c.1485_1499delinsCCCCTGCGAGTTTGT	XP_011527113.1:p.Cys495=
XM_017027841.2:c.1512_1526delinsCCCCTGCGAGTTTGT	XP_016883330.1:p.Cys504=
XM_017027842.2:c.1515_1529delinsCCCCTGCGAGTTTGT	XP_016883331.1:p.Cys505=
XM_017027843.1:c.1446_1460delinsCCCCTGCGAGTTTGT	XP_016883332.1:p.Cys482=
XM_017027844.2:c.1512_1526delinsCCCCTGCGAGTTTGT	XP_016883333.1:p.Cys504=
XM_017027845.1:c.477_491delinsCCCCTGCGAGTTTGT	XP_016883334.1:p.Cys159=
NM_004518.6:c.1485_1499delinsCCCCTGCGAGTTTGT	NP_004509.2:p.Cys495=
NM_172106.3:c.1515_1529delinsCCCCTGCGAGTTTGT	NP_742104.1:p.Cys505=
NM_172107.4:c.1569_1583delinsCCCCTGCGAGTTTGT MANE Select	NP_742105.1:p.Cys523=
NM_172108.5:c.1476_1490delinsCCCCTGCGAGTTTGT	NP_742106.1:p.Cys492=
NM_001382235.1:c.1515_1529delinsCCCCTGCGAGTTTGT	NP_001369164.1:p.Cys505=