Canonical Allele Identifier: CA2838520115
Gene: KCNQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63406798dup , CM000682.2:g.63406798dup GRCh38
NC_000020.10:g.62038151dup , CM000682.1:g.62038151dup GRCh37
NC_000020.9:g.61508595dup NCBI36
NG_009004.1:g.70843dup
NG_009004.2:g.70843dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706989.1:c.2519dup ENSP00000516702.1:p.Ala841GlyfsTer?
ENST00000359125.7:c.2465dup MANE Select ENSP00000352035.2:p.Ala823GlyfsTer?
ENST00000637193.1:c.1862dup ENSP00000490734.1:p.Ala622GlyfsTer?
ENST00000344462.8:c.2372dup ENSP00000339611.4:p.Ala792GlyfsTer?
ENST00000357249.6:c.2033dup ENSP00000349789.3:p.Ala679GlyfsTer?
ENST00000359125.6:c.2465dup ENSP00000352035.2:p.Ala823GlyfsTer?
ENST00000360480.7:c.2381dup ENSP00000353668.3:p.Ala795GlyfsTer?
ENST00000370224.5:c.2241+248dup ENSP00000359244.2:n.2241+248dup
ENST00000625514.2:c.2205+248dup ENSP00000486040.1:n.2205+248dup
ENST00000626839.2:c.2411dup ENSP00000486706.1:p.Ala805GlyfsTer?
ENST00000629241.2:c.2133+248dup ENSP00000487142.1:n.2133+248dup
ENST00000629676.2:c.1680-5955dup ENSP00000486194.1:n.1680-5955dup
NM_004518.4:c.2381dup NP_004509.2:p.Ala795GlyfsTer?
NM_172106.1:c.2411dup NP_742104.1:p.Ala805GlyfsTer?
NM_172107.2:c.2465dup NP_742105.1:p.Ala823GlyfsTer?
NM_172108.3:c.2372dup NP_742106.1:p.Ala792GlyfsTer?
XM_006723787.1:c.2507dup XP_006723850.1:p.Ala837GlyfsTer?
XM_011528807.1:c.2573dup XP_011527109.1:p.Ala859GlyfsTer?
XM_011528808.1:c.2570dup XP_011527110.1:p.Ala858GlyfsTer?
XM_011528809.1:c.2543dup XP_011527111.1:p.Ala849GlyfsTer?
XM_011528810.1:c.2519dup XP_011527112.1:p.Ala841GlyfsTer?
XM_011528811.1:c.2489dup XP_011527113.1:p.Ala831GlyfsTer?
XM_011528812.1:c.2462dup XP_011527114.1:p.Ala822GlyfsTer?
XM_011528813.1:c.2447dup XP_011527115.1:p.Ala817GlyfsTer?
XM_011528814.1:c.2054dup XP_011527116.1:p.Ala686GlyfsTer?
NM_004518.5:c.2381dup NP_004509.2:p.Ala795GlyfsTer?
NM_172106.2:c.2411dup NP_742104.1:p.Ala805GlyfsTer?
NM_172107.3:c.2465dup NP_742105.1:p.Ala823GlyfsTer?
NM_172108.4:c.2372dup NP_742106.1:p.Ala792GlyfsTer?
XM_011528810.2:c.2519dup XP_011527112.1:p.Ala841GlyfsTer?
XM_011528811.2:c.2489dup XP_011527113.1:p.Ala831GlyfsTer?
XM_017027841.2:c.2516dup XP_016883330.1:p.Ala840GlyfsTer?
XM_017027842.2:c.2453dup XP_016883331.1:p.Ala819GlyfsTer?
XM_017027843.1:c.2450dup XP_016883332.1:p.Ala818GlyfsTer?
XM_017027844.2:c.2408dup XP_016883333.1:p.Ala804GlyfsTer?
XM_017027845.1:c.1481dup XP_016883334.1:p.Ala495GlyfsTer?
NM_004518.6:c.2381dup NP_004509.2:p.Ala795GlyfsTer?
NM_172106.3:c.2411dup NP_742104.1:p.Ala805GlyfsTer?
NM_172107.4:c.2465dup MANE Select NP_742105.1:p.Ala823GlyfsTer?
NM_172108.5:c.2372dup NP_742106.1:p.Ala792GlyfsTer?
NM_001382235.1:c.2519dup NP_001369164.1:p.Ala841GlyfsTer?