Canonical Allele Identifier: CA10654789
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 369795
ClinVar RCV Id: RCV000678176
dbSNP Id: rs1057516117
MyVariant Identifiers: chr20:g.62046362_62046363del (hg19) chr20:g.63415009_63415010del (hg38)
PubMed: PMID:20437616 PMID:25982755
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63415010_63415011del , CM000682.2:g.63415010_63415011del GRCh38
NC_000020.10:g.62046363_62046364del , CM000682.1:g.62046363_62046364del GRCh37
NC_000020.9:g.61516807_61516808del NCBI36
NG_009004.1:g.62631_62632del
NG_009004.2:g.62631_62632del

Transcript Alleles

HGVS Amino-acid change
ENST00000706989.1:c.1364_1365del ENSP00000516702.1:p.Leu455ArgfsTer?
ENST00000359125.7:c.1418_1419del MANE Select ENSP00000352035.2:p.Leu473ArgfsTer?
ENST00000637193.1:c.815_816del ENSP00000490734.1:p.Leu272ArgfsTer?
ENST00000344462.8:c.1328_1329del ENSP00000339611.4:p.Leu443ArgfsTer?
ENST00000357249.6:c.986_987del ENSP00000349789.3:p.Leu329ArgfsTer?
ENST00000359125.6:c.1418_1419del ENSP00000352035.2:p.Leu473ArgfsTer?
ENST00000360480.7:c.1334_1335del ENSP00000353668.3:p.Leu445ArgfsTer?
ENST00000370224.5:c.1334_1335del ENSP00000359244.2:p.Leu445ArgfsTer?
ENST00000625514.2:c.1298_1299del ENSP00000486040.1:p.Leu433ArgfsTer?
ENST00000626839.2:c.1364_1365del ENSP00000486706.1:p.Leu455ArgfsTer?
ENST00000627221.2:c.478_479del
ENST00000629241.2:c.1334_1335del ENSP00000487142.1:p.Leu445ArgfsTer?
ENST00000629318.1:c.26_27del ENSP00000487384.1:p.Leu9ArgfsTer?
ENST00000629676.2:c.1334_1335del ENSP00000486194.1:p.Leu445ArgfsTer?
NM_004518.4:c.1334_1335del NP_004509.2:p.Leu445ArgfsTer?
NM_172106.1:c.1364_1365del NP_742104.1:p.Leu455ArgfsTer?
NM_172107.2:c.1418_1419del NP_742105.1:p.Leu473ArgfsTer?
NM_172108.3:c.1328_1329del NP_742106.1:p.Leu443ArgfsTer?
XM_006723787.1:c.1418_1419del XP_006723850.1:p.Leu473ArgfsTer?
XM_011528807.1:c.1418_1419del XP_011527109.1:p.Leu473ArgfsTer?
XM_011528808.1:c.1418_1419del XP_011527110.1:p.Leu473ArgfsTer?
XM_011528809.1:c.1388_1389del XP_011527111.1:p.Leu463ArgfsTer?
XM_011528810.1:c.1364_1365del XP_011527112.1:p.Leu455ArgfsTer?
XM_011528811.1:c.1334_1335del XP_011527113.1:p.Leu445ArgfsTer?
XM_011528812.1:c.1418_1419del XP_011527114.1:p.Leu473ArgfsTer?
XM_011528813.1:c.1292_1293del XP_011527115.1:p.Leu431ArgfsTer?
XM_011528814.1:c.899_900del XP_011527116.1:p.Leu300ArgfsTer?
XM_011528815.1:c.1418_1419del XP_011527117.1:p.Leu473ArgfsTer?
NM_004518.5:c.1334_1335del NP_004509.2:p.Leu445ArgfsTer?
NM_172106.2:c.1364_1365del NP_742104.1:p.Leu455ArgfsTer?
NM_172107.3:c.1418_1419del NP_742105.1:p.Leu473ArgfsTer?
NM_172108.4:c.1328_1329del NP_742106.1:p.Leu443ArgfsTer?
XM_011528810.2:c.1364_1365del XP_011527112.1:p.Leu455ArgfsTer?
XM_011528811.2:c.1334_1335del XP_011527113.1:p.Leu445ArgfsTer?
XM_017027841.2:c.1364_1365del XP_016883330.1:p.Leu455ArgfsTer?
XM_017027842.2:c.1364_1365del XP_016883331.1:p.Leu455ArgfsTer?
XM_017027843.1:c.1295_1296del XP_016883332.1:p.Leu432ArgfsTer?
XM_017027844.2:c.1364_1365del XP_016883333.1:p.Leu455ArgfsTer?
XM_017027845.1:c.326_327del XP_016883334.1:p.Leu109ArgfsTer?
NM_004518.6:c.1334_1335del NP_004509.2:p.Leu445ArgfsTer?
NM_172106.3:c.1364_1365del NP_742104.1:p.Leu455ArgfsTer?
NM_172107.4:c.1418_1419del MANE Select NP_742105.1:p.Leu473ArgfsTer?
NM_172108.5:c.1328_1329del NP_742106.1:p.Leu443ArgfsTer?
NM_001382235.1:c.1364_1365del NP_001369164.1:p.Leu455ArgfsTer?
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