Canonical Allele Identifier: CA409638128
Gene: KCNQ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63406998G>T , CM000682.2:g.63406998G>T GRCh38
NC_000020.10:g.62038351G>T , CM000682.1:g.62038351G>T GRCh37
NC_000020.9:g.61508795G>T NCBI36
NG_009004.1:g.70643C>A
NG_009004.2:g.70643C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706989.1:c.2319C>A ENSP00000516702.1:p.Tyr773Ter
ENST00000359125.7:c.2265C>A MANE Select ENSP00000352035.2:p.Tyr755Ter
ENST00000637193.1:c.1662C>A ENSP00000490734.1:p.Tyr554Ter
ENST00000344462.8:c.2172C>A ENSP00000339611.4:p.Tyr724Ter
ENST00000357249.6:c.1833C>A ENSP00000349789.3:p.Tyr611Ter
ENST00000359125.6:c.2265C>A ENSP00000352035.2:p.Tyr755Ter
ENST00000360480.7:c.2181C>A ENSP00000353668.3:p.Tyr727Ter
ENST00000370224.5:c.2241+48C>A ENSP00000359244.2:n.2241+48C>A
ENST00000625514.2:c.2205+48C>A ENSP00000486040.1:n.2205+48C>A
ENST00000626839.2:c.2211C>A ENSP00000486706.1:p.Tyr737Ter
ENST00000629241.2:c.2133+48C>A ENSP00000487142.1:n.2133+48C>A
ENST00000629676.2:c.1680-6155C>A ENSP00000486194.1:n.1680-6155C>A
NM_004518.4:c.2181C>A NP_004509.2:p.Tyr727Ter
NM_172106.1:c.2211C>A NP_742104.1:p.Tyr737Ter
NM_172107.2:c.2265C>A NP_742105.1:p.Tyr755Ter
NM_172108.3:c.2172C>A NP_742106.1:p.Tyr724Ter
XM_006723787.1:c.2307C>A XP_006723850.1:p.Tyr769Ter
XM_011528807.1:c.2373C>A XP_011527109.1:p.Tyr791Ter
XM_011528808.1:c.2370C>A XP_011527110.1:p.Tyr790Ter
XM_011528809.1:c.2343C>A XP_011527111.1:p.Tyr781Ter
XM_011528810.1:c.2319C>A XP_011527112.1:p.Tyr773Ter
XM_011528811.1:c.2289C>A XP_011527113.1:p.Tyr763Ter
XM_011528812.1:c.2262C>A XP_011527114.1:p.Tyr754Ter
XM_011528813.1:c.2247C>A XP_011527115.1:p.Tyr749Ter
XM_011528814.1:c.1854C>A XP_011527116.1:p.Tyr618Ter
NM_004518.5:c.2181C>A NP_004509.2:p.Tyr727Ter
NM_172106.2:c.2211C>A NP_742104.1:p.Tyr737Ter
NM_172107.3:c.2265C>A NP_742105.1:p.Tyr755Ter
NM_172108.4:c.2172C>A NP_742106.1:p.Tyr724Ter
XM_011528810.2:c.2319C>A XP_011527112.1:p.Tyr773Ter
XM_011528811.2:c.2289C>A XP_011527113.1:p.Tyr763Ter
XM_017027841.2:c.2316C>A XP_016883330.1:p.Tyr772Ter
XM_017027842.2:c.2253C>A XP_016883331.1:p.Tyr751Ter
XM_017027843.1:c.2250C>A XP_016883332.1:p.Tyr750Ter
XM_017027844.2:c.2208C>A XP_016883333.1:p.Tyr736Ter
XM_017027845.1:c.1281C>A XP_016883334.1:p.Tyr427Ter
NM_004518.6:c.2181C>A NP_004509.2:p.Tyr727Ter
NM_172106.3:c.2211C>A NP_742104.1:p.Tyr737Ter
NM_172107.4:c.2265C>A MANE Select NP_742105.1:p.Tyr755Ter
NM_172108.5:c.2172C>A NP_742106.1:p.Tyr724Ter
NM_001382235.1:c.2319C>A NP_001369164.1:p.Tyr773Ter