Canonical Allele Identifier: CA342471
Gene: KCNQ2 HGNC NCBI

Linked Data

dbSNP Id: rs118192230
MyVariant Identifiers: chr20:g.62045490_62045503del (hg19) chr20:g.63414137_63414150del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63414139_63414152del , CM000682.2:g.63414139_63414152del GRCh38
NC_000020.10:g.62045492_62045505del , CM000682.1:g.62045492_62045505del GRCh37
NC_000020.9:g.61515936_61515949del NCBI36
NG_009004.1:g.63491_63504del
NG_009004.2:g.63491_63504del

Transcript Alleles

HGVS Amino-acid change
ENST00000706989.1:c.1515_1528del ENSP00000516702.1:p.Pro506AspfsTer?
ENST00000359125.7:c.1569_1582del MANE Select ENSP00000352035.2:p.Pro524AspfsTer?
ENST00000637193.1:c.966_979del ENSP00000490734.1:p.Pro323AspfsTer?
ENST00000344462.8:c.1476_1489del ENSP00000339611.4:p.Pro493AspfsTer?
ENST00000357249.6:c.1137_1150del ENSP00000349789.3:p.Pro380AspfsTer?
ENST00000359125.6:c.1569_1582del ENSP00000352035.2:p.Pro524AspfsTer?
ENST00000360480.7:c.1485_1498del ENSP00000353668.3:p.Pro496AspfsTer?
ENST00000370224.5:c.1485_1498del ENSP00000359244.2:p.Pro496AspfsTer?
ENST00000625514.2:c.1449_1462del ENSP00000486040.1:p.Pro484AspfsTer?
ENST00000626839.2:c.1515_1528del ENSP00000486706.1:p.Pro506AspfsTer?
ENST00000627221.2:c.626_639del
ENST00000629241.2:c.1485_1498del ENSP00000487142.1:p.Pro496AspfsTer?
ENST00000629318.1:c.177_190del ENSP00000487384.1:p.Pro60AspfsTer?
ENST00000629676.2:c.1485_1498del ENSP00000486194.1:p.Pro496AspfsTer?
NM_004518.4:c.1485_1498del NP_004509.2:p.Pro496AspfsTer?
NM_172106.1:c.1515_1528del NP_742104.1:p.Pro506AspfsTer?
NM_172107.2:c.1569_1582del NP_742105.1:p.Pro524AspfsTer?
NM_172108.3:c.1476_1489del NP_742106.1:p.Pro493AspfsTer?
XM_006723787.1:c.1569_1582del XP_006723850.1:p.Pro524AspfsTer?
XM_011528807.1:c.1569_1582del XP_011527109.1:p.Pro524AspfsTer?
XM_011528808.1:c.1566_1579del XP_011527110.1:p.Pro523AspfsTer?
XM_011528809.1:c.1539_1552del XP_011527111.1:p.Pro514AspfsTer?
XM_011528810.1:c.1515_1528del XP_011527112.1:p.Pro506AspfsTer?
XM_011528811.1:c.1485_1498del XP_011527113.1:p.Pro496AspfsTer?
XM_011528812.1:c.1566_1579del XP_011527114.1:p.Pro523AspfsTer?
XM_011528813.1:c.1443_1456del XP_011527115.1:p.Pro482AspfsTer?
XM_011528814.1:c.1050_1063del XP_011527116.1:p.Pro351AspfsTer?
XM_011528815.1:c.1569_1582del XP_011527117.1:p.Pro524AspfsTer?
NM_004518.5:c.1485_1498del NP_004509.2:p.Pro496AspfsTer?
NM_172106.2:c.1515_1528del NP_742104.1:p.Pro506AspfsTer?
NM_172107.3:c.1569_1582del NP_742105.1:p.Pro524AspfsTer?
NM_172108.4:c.1476_1489del NP_742106.1:p.Pro493AspfsTer?
XM_011528810.2:c.1515_1528del XP_011527112.1:p.Pro506AspfsTer?
XM_011528811.2:c.1485_1498del XP_011527113.1:p.Pro496AspfsTer?
XM_017027841.2:c.1512_1525del XP_016883330.1:p.Pro505AspfsTer?
XM_017027842.2:c.1515_1528del XP_016883331.1:p.Pro506AspfsTer?
XM_017027843.1:c.1446_1459del XP_016883332.1:p.Pro483AspfsTer?
XM_017027844.2:c.1512_1525del XP_016883333.1:p.Pro505AspfsTer?
XM_017027845.1:c.477_490del XP_016883334.1:p.Pro160AspfsTer?
NM_004518.6:c.1485_1498del NP_004509.2:p.Pro496AspfsTer?
NM_172106.3:c.1515_1528del NP_742104.1:p.Pro506AspfsTer?
NM_172107.4:c.1569_1582del MANE Select NP_742105.1:p.Pro524AspfsTer?
NM_172108.5:c.1476_1489del NP_742106.1:p.Pro493AspfsTer?
NM_001382235.1:c.1515_1528del NP_001369164.1:p.Pro506AspfsTer?
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