Canonical Allele Identifier: CA342497
Gene: KCNQ2 HGNC NCBI

Linked Data

dbSNP Id: rs118192246

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63406659_63406663dup , CM000682.2:g.63406659_63406663dup GRCh38
NC_000020.10:g.62038012_62038016dup , CM000682.1:g.62038012_62038016dup GRCh37
NC_000020.9:g.61508456_61508460dup NCBI36
NG_009004.1:g.70983_70987dup
NG_009004.2:g.70983_70987dup

Transcript Alleles

HGVS Amino-acid change
ENST00000706989.1:c.2659_2663dup ENSP00000516702.1:p.Arg889GlyfsTer?
ENST00000359125.7:c.2605_2609dup MANE Select ENSP00000352035.2:p.Arg871GlyfsTer?
ENST00000637193.1:c.2002_2006dup ENSP00000490734.1:p.Arg670GlyfsTer?
ENST00000344462.8:c.2512_2516dup ENSP00000339611.4:p.Arg840GlyfsTer?
ENST00000357249.6:c.2173_2177dup ENSP00000349789.3:p.Arg727GlyfsTer?
ENST00000359125.6:c.2605_2609dup ENSP00000352035.2:p.Arg871GlyfsTer?
ENST00000360480.7:c.2521_2525dup ENSP00000353668.3:p.Arg843GlyfsTer?
ENST00000370224.5:c.2241+388_2241+392dup ENSP00000359244.2:n.2241+388_2241+392dup
ENST00000625514.2:c.2205+388_2205+392dup ENSP00000486040.1:n.2205+388_2205+392dup
ENST00000626839.2:c.2551_2555dup ENSP00000486706.1:p.Arg853GlyfsTer?
ENST00000629241.2:c.2133+388_2133+392dup ENSP00000487142.1:n.2133+388_2133+392dup
ENST00000629676.2:c.1680-5815_1680-5811dup ENSP00000486194.1:n.1680-5815_1680-5811du...
NM_004518.4:c.2521_2525dup NP_004509.2:p.Arg843GlyfsTer?
NM_172106.1:c.2551_2555dup NP_742104.1:p.Arg853GlyfsTer?
NM_172107.2:c.2605_2609dup NP_742105.1:p.Arg871GlyfsTer?
NM_172108.3:c.2512_2516dup NP_742106.1:p.Arg840GlyfsTer?
XM_006723787.1:c.2647_2651dup XP_006723850.1:p.Arg885GlyfsTer?
XM_011528807.1:c.2713_2717dup XP_011527109.1:p.Arg907GlyfsTer?
XM_011528808.1:c.2710_2714dup XP_011527110.1:p.Arg906GlyfsTer?
XM_011528809.1:c.2683_2687dup XP_011527111.1:p.Arg897GlyfsTer?
XM_011528810.1:c.2659_2663dup XP_011527112.1:p.Arg889GlyfsTer?
XM_011528811.1:c.2629_2633dup XP_011527113.1:p.Arg879GlyfsTer?
XM_011528812.1:c.2602_2606dup XP_011527114.1:p.Arg870GlyfsTer?
XM_011528813.1:c.2587_2591dup XP_011527115.1:p.Arg865GlyfsTer?
XM_011528814.1:c.2194_2198dup XP_011527116.1:p.Arg734GlyfsTer?
NM_004518.5:c.2521_2525dup NP_004509.2:p.Arg843GlyfsTer?
NM_172106.2:c.2551_2555dup NP_742104.1:p.Arg853GlyfsTer?
NM_172107.3:c.2605_2609dup NP_742105.1:p.Arg871GlyfsTer?
NM_172108.4:c.2512_2516dup NP_742106.1:p.Arg840GlyfsTer?
XM_011528810.2:c.2659_2663dup XP_011527112.1:p.Arg889GlyfsTer?
XM_011528811.2:c.2629_2633dup XP_011527113.1:p.Arg879GlyfsTer?
XM_017027841.2:c.2656_2660dup XP_016883330.1:p.Arg888GlyfsTer?
XM_017027842.2:c.2593_2597dup XP_016883331.1:p.Arg867GlyfsTer?
XM_017027843.1:c.2590_2594dup XP_016883332.1:p.Arg866GlyfsTer?
XM_017027844.2:c.2548_2552dup XP_016883333.1:p.Arg852GlyfsTer?
XM_017027845.1:c.1621_1625dup XP_016883334.1:p.Arg543GlyfsTer?
NM_004518.6:c.2521_2525dup NP_004509.2:p.Arg843GlyfsTer?
NM_172106.3:c.2551_2555dup NP_742104.1:p.Arg853GlyfsTer?
NM_172107.4:c.2605_2609dup MANE Select NP_742105.1:p.Arg871GlyfsTer?
NM_172108.5:c.2512_2516dup NP_742106.1:p.Arg840GlyfsTer?
NM_001382235.1:c.2659_2663dup NP_001369164.1:p.Arg889GlyfsTer?