Canonical Allele Identifier: CA2695230078

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414140_63414152del , CM000682.2:g.63414140_63414152del	GRCh38
NC_000020.10:g.62045493_62045505del , CM000682.1:g.62045493_62045505del	GRCh37
NC_000020.9:g.61515937_61515949del	NCBI36
NG_009004.1:g.63490_63502del
NG_009004.2:g.63490_63502del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1514_1526del	ENSP00000516702.1:p.Cys505LeufsTer2
ENST00000359125.7:c.1568_1580del MANE Select	ENSP00000352035.2:p.Cys523LeufsTer2
ENST00000637193.1:c.965_977del	ENSP00000490734.1:p.Cys322LeufsTer2
ENST00000344462.8:c.1475_1487del	ENSP00000339611.4:p.Cys492LeufsTer2
ENST00000357249.6:c.1136_1148del	ENSP00000349789.3:p.Cys379LeufsTer2
ENST00000359125.6:c.1568_1580del	ENSP00000352035.2:p.Cys523LeufsTer2
ENST00000360480.7:c.1484_1496del	ENSP00000353668.3:p.Cys495LeufsTer2
ENST00000370224.5:c.1484_1496del	ENSP00000359244.2:p.Cys495LeufsTer2
ENST00000625514.2:c.1448_1460del	ENSP00000486040.1:p.Cys483LeufsTer2
ENST00000626839.2:c.1514_1526del	ENSP00000486706.1:p.Cys505LeufsTer2
ENST00000627221.2:c.625_637del
ENST00000629241.2:c.1484_1496del	ENSP00000487142.1:p.Cys495LeufsTer2
ENST00000629318.1:c.176_188del	ENSP00000487384.1:p.Cys59LeufsTer2
ENST00000629676.2:c.1484_1496del	ENSP00000486194.1:p.Cys495LeufsTer2
NM_004518.4:c.1484_1496del	NP_004509.2:p.Cys495LeufsTer2
NM_172106.1:c.1514_1526del	NP_742104.1:p.Cys505LeufsTer2
NM_172107.2:c.1568_1580del	NP_742105.1:p.Cys523LeufsTer2
NM_172108.3:c.1475_1487del	NP_742106.1:p.Cys492LeufsTer2
XM_006723787.1:c.1568_1580del	XP_006723850.1:p.Cys523LeufsTer2
XM_011528807.1:c.1568_1580del	XP_011527109.1:p.Cys523LeufsTer2
XM_011528808.1:c.1565_1577del	XP_011527110.1:p.Cys522LeufsTer2
XM_011528809.1:c.1538_1550del	XP_011527111.1:p.Cys513LeufsTer2
XM_011528810.1:c.1514_1526del	XP_011527112.1:p.Cys505LeufsTer2
XM_011528811.1:c.1484_1496del	XP_011527113.1:p.Cys495LeufsTer2
XM_011528812.1:c.1565_1577del	XP_011527114.1:p.Cys522LeufsTer2
XM_011528813.1:c.1442_1454del	XP_011527115.1:p.Cys481LeufsTer2
XM_011528814.1:c.1049_1061del	XP_011527116.1:p.Cys350LeufsTer2
XM_011528815.1:c.1568_1580del	XP_011527117.1:p.Cys523LeufsTer2
NM_004518.5:c.1484_1496del	NP_004509.2:p.Cys495LeufsTer2
NM_172106.2:c.1514_1526del	NP_742104.1:p.Cys505LeufsTer2
NM_172107.3:c.1568_1580del	NP_742105.1:p.Cys523LeufsTer2
NM_172108.4:c.1475_1487del	NP_742106.1:p.Cys492LeufsTer2
XM_011528810.2:c.1514_1526del	XP_011527112.1:p.Cys505LeufsTer2
XM_011528811.2:c.1484_1496del	XP_011527113.1:p.Cys495LeufsTer2
XM_017027841.2:c.1511_1523del	XP_016883330.1:p.Cys504LeufsTer2
XM_017027842.2:c.1514_1526del	XP_016883331.1:p.Cys505LeufsTer2
XM_017027843.1:c.1445_1457del	XP_016883332.1:p.Cys482LeufsTer2
XM_017027844.2:c.1511_1523del	XP_016883333.1:p.Cys504LeufsTer2
XM_017027845.1:c.476_488del	XP_016883334.1:p.Cys159LeufsTer2
NM_004518.6:c.1484_1496del	NP_004509.2:p.Cys495LeufsTer2
NM_172106.3:c.1514_1526del	NP_742104.1:p.Cys505LeufsTer2
NM_172107.4:c.1568_1580del MANE Select	NP_742105.1:p.Cys523LeufsTer2
NM_172108.5:c.1475_1487del	NP_742106.1:p.Cys492LeufsTer2
NM_001382235.1:c.1514_1526del	NP_001369164.1:p.Cys505LeufsTer2