Canonical Allele Identifier: CA342466
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21759
ClinVar RCV Id: RCV003588564
dbSNP Id: rs118192222
MyVariant Identifiers: chr20:g.62059744_62059745del (hg19) chr20:g.63428391_63428392del (hg38)
PubMed: PMID:15030501 PMID:20437616
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63428391_63428392del , CM000682.2:g.63428391_63428392del GRCh38
NC_000020.10:g.62059744_62059745del , CM000682.1:g.62059744_62059745del GRCh37
NC_000020.9:g.61530188_61530189del NCBI36
NG_009004.1:g.49249_49250del
NG_009004.2:g.49249_49250del

Transcript Alleles

HGVS Amino-acid change
ENST00000706989.1:c.1192_1193del ENSP00000516702.1:p.Lys398GlufsTer2
ENST00000359125.7:c.1192_1193del MANE Select ENSP00000352035.2:p.Lys398GlufsTer2
ENST00000636638.1:n.75_76del
ENST00000637193.1:c.643_644del ENSP00000490734.1:p.Lys215GlufsTer2
ENST00000637632.1:n.31_32del
ENST00000344462.8:c.1192_1193del ENSP00000339611.4:p.Lys398GlufsTer2
ENST00000357249.6:c.850_851del ENSP00000349789.3:p.Lys284GlufsTer2
ENST00000359125.6:c.1192_1193del ENSP00000352035.2:p.Lys398GlufsTer2
ENST00000360480.7:c.1162_1163del ENSP00000353668.3:p.Lys388GlufsTer2
ENST00000370221.3:n.1318_1319del
ENST00000370224.5:c.1162_1163del ENSP00000359244.2:p.Lys388GlufsTer2
ENST00000625514.2:c.1162_1163del ENSP00000486040.1:p.Lys388GlufsTer2
ENST00000626839.2:c.1192_1193del ENSP00000486706.1:p.Lys398GlufsTer2
ENST00000627221.2:c.306_307del
ENST00000629241.2:c.1162_1163del ENSP00000487142.1:p.Lys388GlufsTer2
ENST00000629676.2:c.1162_1163del ENSP00000486194.1:p.Lys388GlufsTer2
NM_004518.4:c.1162_1163del NP_004509.2:p.Lys388GlufsTer2
NM_172106.1:c.1192_1193del NP_742104.1:p.Lys398GlufsTer2
NM_172107.2:c.1192_1193del NP_742105.1:p.Lys398GlufsTer2
NM_172108.3:c.1192_1193del NP_742106.1:p.Lys398GlufsTer2
XM_006723787.1:c.1192_1193del XP_006723850.1:p.Lys398GlufsTer2
XM_011528807.1:c.1192_1193del XP_011527109.1:p.Lys398GlufsTer2
XM_011528808.1:c.1192_1193del XP_011527110.1:p.Lys398GlufsTer2
XM_011528809.1:c.1162_1163del XP_011527111.1:p.Lys388GlufsTer2
XM_011528810.1:c.1192_1193del XP_011527112.1:p.Lys398GlufsTer2
XM_011528811.1:c.1162_1163del XP_011527113.1:p.Lys388GlufsTer2
XM_011528812.1:c.1192_1193del XP_011527114.1:p.Lys398GlufsTer2
XM_011528813.1:c.1066_1067del XP_011527115.1:p.Lys356GlufsTer2
XM_011528814.1:c.673_674del XP_011527116.1:p.Lys225GlufsTer2
XM_011528815.1:c.1192_1193del XP_011527117.1:p.Lys398GlufsTer2
NM_004518.5:c.1162_1163del NP_004509.2:p.Lys388GlufsTer2
NM_172106.2:c.1192_1193del NP_742104.1:p.Lys398GlufsTer2
NM_172107.3:c.1192_1193del NP_742105.1:p.Lys398GlufsTer2
NM_172108.4:c.1192_1193del NP_742106.1:p.Lys398GlufsTer2
XM_011528810.2:c.1192_1193del XP_011527112.1:p.Lys398GlufsTer2
XM_011528811.2:c.1162_1163del XP_011527113.1:p.Lys388GlufsTer2
XM_017027841.2:c.1192_1193del XP_016883330.1:p.Lys398GlufsTer2
XM_017027842.2:c.1192_1193del XP_016883331.1:p.Lys398GlufsTer2
XM_017027843.1:c.1123_1124del XP_016883332.1:p.Lys375GlufsTer2
XM_017027844.2:c.1192_1193del XP_016883333.1:p.Lys398GlufsTer2
NM_004518.6:c.1162_1163del NP_004509.2:p.Lys388GlufsTer2
NM_172106.3:c.1192_1193del NP_742104.1:p.Lys398GlufsTer2
NM_172107.4:c.1192_1193del MANE Select NP_742105.1:p.Lys398GlufsTer2
NM_172108.5:c.1192_1193del NP_742106.1:p.Lys398GlufsTer2
NM_001382235.1:c.1192_1193del NP_001369164.1:p.Lys398GlufsTer2
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