Canonical Allele Identifier: CA2580098406
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1746565
ClinVar RCV Id: RCV002344454

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63444807_63444827dup , CM000682.2:g.63444807_63444827dup GRCh38
NC_000020.10:g.62076160_62076180dup , CM000682.1:g.62076160_62076180dup GRCh37
NC_000020.9:g.61546604_61546624dup NCBI36
NG_009004.1:g.32820_32840dup
NG_009004.2:g.32820_32840dup

Transcript Alleles

HGVS Amino-acid change
ENST00000706989.1:c.528_548dup ENSP00000516702.1:p.Leu183_Ala184insIleAl...
ENST00000344425.8:c.528_548dup ENSP00000345523.5:p.Leu183_Ala184insIleAl...
ENST00000359125.7:c.528_548dup MANE Select ENSP00000352035.2:p.Leu183_Ala184insIleAl...
ENST00000636255.1:n.266_286dup
ENST00000637193.1:c.9_29dup ENSP00000490734.1:p.Leu10_Ala11insIleAlaS...
ENST00000344425.7:c.528_548dup ENSP00000345523.5:p.Leu183_Ala184insIleAl...
ENST00000344462.8:c.528_548dup ENSP00000339611.4:p.Leu183_Ala184insIleAl...
ENST00000357249.6:c.186_206dup ENSP00000349789.3:p.Leu69_Ala70insIleAlaS...
ENST00000359125.6:c.528_548dup ENSP00000352035.2:p.Leu183_Ala184insIleAl...
ENST00000360480.7:c.528_548dup ENSP00000353668.3:p.Leu183_Ala184insIleAl...
ENST00000370221.3:n.654_674dup
ENST00000370224.5:c.528_548dup ENSP00000359244.2:p.Leu183_Ala184insIleAl...
ENST00000625514.2:c.528_548dup ENSP00000486040.1:p.Leu183_Ala184insIleAl...
ENST00000626313.1:n.370_390dup
ENST00000626839.2:c.528_548dup ENSP00000486706.1:p.Leu183_Ala184insIleAl...
ENST00000629241.2:c.528_548dup ENSP00000487142.1:p.Leu183_Ala184insIleAl...
ENST00000629676.2:c.528_548dup ENSP00000486194.1:p.Leu183_Ala184insIleAl...
ENST00000630274.2:n.353_373dup
NM_004518.4:c.528_548dup NP_004509.2:p.Leu183_Ala184insIleAlaSerIl...
NM_172106.1:c.528_548dup NP_742104.1:p.Leu183_Ala184insIleAlaSerIl...
NM_172107.2:c.528_548dup NP_742105.1:p.Leu183_Ala184insIleAlaSerIl...
NM_172108.3:c.528_548dup NP_742106.1:p.Leu183_Ala184insIleAlaSerIl...
NM_172109.1:c.528_548dup NP_742107.1:p.Leu183_Ala184insIleAlaSerIl...
XM_006723787.1:c.528_548dup XP_006723850.1:p.Leu183_Ala184insIleAlaSe...
XM_011528807.1:c.528_548dup XP_011527109.1:p.Leu183_Ala184insIleAlaSe...
XM_011528808.1:c.528_548dup XP_011527110.1:p.Leu183_Ala184insIleAlaSe...
XM_011528809.1:c.528_548dup XP_011527111.1:p.Leu183_Ala184insIleAlaSe...
XM_011528810.1:c.528_548dup XP_011527112.1:p.Leu183_Ala184insIleAlaSe...
XM_011528811.1:c.528_548dup XP_011527113.1:p.Leu183_Ala184insIleAlaSe...
XM_011528812.1:c.528_548dup XP_011527114.1:p.Leu183_Ala184insIleAlaSe...
XM_011528813.1:c.528_548dup XP_011527115.1:p.Leu183_Ala184insIleAlaSe...
XM_011528814.1:c.9_29dup XP_011527116.1:p.Leu10_Ala11insIleAlaSerI...
XM_011528815.1:c.528_548dup XP_011527117.1:p.Leu183_Ala184insIleAlaSe...
XM_011528816.1:c.528_548dup XP_011527118.1:p.Leu183_Ala184insIleAlaSe...
NM_004518.5:c.528_548dup NP_004509.2:p.Leu183_Ala184insIleAlaSerIl...
NM_172106.2:c.528_548dup NP_742104.1:p.Leu183_Ala184insIleAlaSerIl...
NM_172107.3:c.528_548dup NP_742105.1:p.Leu183_Ala184insIleAlaSerIl...
NM_172108.4:c.528_548dup NP_742106.1:p.Leu183_Ala184insIleAlaSerIl...
NM_172109.2:c.528_548dup NP_742107.1:p.Leu183_Ala184insIleAlaSerIl...
XM_011528810.2:c.528_548dup XP_011527112.1:p.Leu183_Ala184insIleAlaSe...
XM_011528811.2:c.528_548dup XP_011527113.1:p.Leu183_Ala184insIleAlaSe...
XM_017027841.2:c.528_548dup XP_016883330.1:p.Leu183_Ala184insIleAlaSe...
XM_017027842.2:c.528_548dup XP_016883331.1:p.Leu183_Ala184insIleAlaSe...
XM_017027843.1:c.459_479dup XP_016883332.1:p.Leu160_Ala161insIleAlaSe...
XM_017027844.2:c.528_548dup XP_016883333.1:p.Leu183_Ala184insIleAlaSe...
NM_004518.6:c.528_548dup NP_004509.2:p.Leu183_Ala184insIleAlaSerIl...
NM_172106.3:c.528_548dup NP_742104.1:p.Leu183_Ala184insIleAlaSerIl...
NM_172107.4:c.528_548dup MANE Select NP_742105.1:p.Leu183_Ala184insIleAlaSerIl...
NM_172108.5:c.528_548dup NP_742106.1:p.Leu183_Ala184insIleAlaSerIl...
NM_172109.3:c.528_548dup NP_742107.1:p.Leu183_Ala184insIleAlaSerIl...
NM_001382235.1:c.528_548dup NP_001369164.1:p.Leu183_Ala184insIleAlaSe...