Canonical Allele Identifier: CA315556
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 7390
dbSNP Id: rs118192244

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63407136del , CM000682.2:g.63407136del GRCh38
NC_000020.10:g.62038489del , CM000682.1:g.62038489del GRCh37
NC_000020.9:g.61508933del NCBI36
NG_009004.1:g.70505del
NG_009004.2:g.70505del

Transcript Alleles

HGVS Amino-acid change
ENST00000706989.1:c.2181del ENSP00000516702.1:p.Val728SerfsTer?
ENST00000359125.7:c.2127del MANE Select ENSP00000352035.2:p.Val710SerfsTer?
ENST00000637193.1:c.1524del ENSP00000490734.1:p.Val509SerfsTer?
ENST00000344462.8:c.2034del ENSP00000339611.4:p.Val679SerfsTer?
ENST00000357249.6:c.1695del ENSP00000349789.3:p.Val566SerfsTer?
ENST00000359125.6:c.2127del ENSP00000352035.2:p.Val710SerfsTer?
ENST00000360480.7:c.2043del ENSP00000353668.3:p.Val682SerfsTer?
ENST00000370224.5:c.2151del ENSP00000359244.2:p.Val718SerfsTer?
ENST00000625514.2:c.2115del ENSP00000486040.1:p.Val706SerfsTer?
ENST00000626839.2:c.2073del ENSP00000486706.1:p.Val692SerfsTer?
ENST00000629241.2:c.2043del ENSP00000487142.1:p.Val682SerfsTer?
ENST00000629676.2:c.1680-6293del ENSP00000486194.1:n.1680-6293del
NM_004518.4:c.2043del NP_004509.2:p.Val682SerfsTer?
NM_172106.1:c.2073del NP_742104.1:p.Val692SerfsTer?
NM_172107.2:c.2127del NP_742105.1:p.Val710SerfsTer?
NM_172108.3:c.2034del NP_742106.1:p.Val679SerfsTer?
XM_006723787.1:c.2169del XP_006723850.1:p.Val724SerfsTer?
XM_011528807.1:c.2235del XP_011527109.1:p.Val746SerfsTer?
XM_011528808.1:c.2232del XP_011527110.1:p.Val745SerfsTer?
XM_011528809.1:c.2205del XP_011527111.1:p.Val736SerfsTer?
XM_011528810.1:c.2181del XP_011527112.1:p.Val728SerfsTer?
XM_011528811.1:c.2151del XP_011527113.1:p.Val718SerfsTer?
XM_011528812.1:c.2124del XP_011527114.1:p.Val709SerfsTer?
XM_011528813.1:c.2109del XP_011527115.1:p.Val704SerfsTer?
XM_011528814.1:c.1716del XP_011527116.1:p.Val573SerfsTer?
NM_004518.5:c.2043del NP_004509.2:p.Val682SerfsTer?
NM_172106.2:c.2073del NP_742104.1:p.Val692SerfsTer?
NM_172107.3:c.2127del NP_742105.1:p.Val710SerfsTer?
NM_172108.4:c.2034del NP_742106.1:p.Val679SerfsTer?
XM_011528810.2:c.2181del XP_011527112.1:p.Val728SerfsTer?
XM_011528811.2:c.2151del XP_011527113.1:p.Val718SerfsTer?
XM_017027841.2:c.2178del XP_016883330.1:p.Val727SerfsTer?
XM_017027842.2:c.2115del XP_016883331.1:p.Val706SerfsTer?
XM_017027843.1:c.2112del XP_016883332.1:p.Val705SerfsTer?
XM_017027844.2:c.2070del XP_016883333.1:p.Val691SerfsTer?
XM_017027845.1:c.1143del XP_016883334.1:p.Val382SerfsTer?
NM_004518.6:c.2043del NP_004509.2:p.Val682SerfsTer?
NM_172106.3:c.2073del NP_742104.1:p.Val692SerfsTer?
NM_172107.4:c.2127del MANE Select NP_742105.1:p.Val710SerfsTer?
NM_172108.5:c.2034del NP_742106.1:p.Val679SerfsTer?
NM_001382235.1:c.2181del NP_001369164.1:p.Val728SerfsTer?