Canonical Allele Identifier: CA409639093
Gene: KCNQ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63407210A>G , CM000682.2:g.63407210A>G GRCh38
NC_000020.10:g.62038563A>G , CM000682.1:g.62038563A>G GRCh37
NC_000020.9:g.61509007A>G NCBI36
NG_009004.1:g.70431T>C
NG_009004.2:g.70431T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706989.1:c.2107T>C ENSP00000516702.1:p.Cys703Arg
ENST00000359125.7:c.2053T>C MANE Select ENSP00000352035.2:p.Cys685Arg
ENST00000637193.1:c.1450T>C ENSP00000490734.1:p.Cys484Arg
ENST00000344462.8:c.1960T>C ENSP00000339611.4:p.Cys654Arg
ENST00000357249.6:c.1621T>C ENSP00000349789.3:p.Cys541Arg
ENST00000359125.6:c.2053T>C ENSP00000352035.2:p.Cys685Arg
ENST00000360480.7:c.1969T>C ENSP00000353668.3:p.Cys657Arg
ENST00000370224.5:c.2077T>C ENSP00000359244.2:p.Cys693Arg
ENST00000625514.2:c.2041T>C ENSP00000486040.1:p.Cys681Arg
ENST00000626839.2:c.1999T>C ENSP00000486706.1:p.Cys667Arg
ENST00000629241.2:c.1969T>C ENSP00000487142.1:p.Cys657Arg
ENST00000629676.2:c.1679+6240T>C ENSP00000486194.1:n.1679+6240T>C
NM_004518.4:c.1969T>C NP_004509.2:p.Cys657Arg
NM_172106.1:c.1999T>C NP_742104.1:p.Cys667Arg
NM_172107.2:c.2053T>C NP_742105.1:p.Cys685Arg
NM_172108.3:c.1960T>C NP_742106.1:p.Cys654Arg
XM_006723787.1:c.2095T>C XP_006723850.1:p.Cys699Arg
XM_011528807.1:c.2161T>C XP_011527109.1:p.Cys721Arg
XM_011528808.1:c.2158T>C XP_011527110.1:p.Cys720Arg
XM_011528809.1:c.2131T>C XP_011527111.1:p.Cys711Arg
XM_011528810.1:c.2107T>C XP_011527112.1:p.Cys703Arg
XM_011528811.1:c.2077T>C XP_011527113.1:p.Cys693Arg
XM_011528812.1:c.2050T>C XP_011527114.1:p.Cys684Arg
XM_011528813.1:c.2035T>C XP_011527115.1:p.Cys679Arg
XM_011528814.1:c.1642T>C XP_011527116.1:p.Cys548Arg
NM_004518.5:c.1969T>C NP_004509.2:p.Cys657Arg
NM_172106.2:c.1999T>C NP_742104.1:p.Cys667Arg
NM_172107.3:c.2053T>C NP_742105.1:p.Cys685Arg
NM_172108.4:c.1960T>C NP_742106.1:p.Cys654Arg
XM_011528810.2:c.2107T>C XP_011527112.1:p.Cys703Arg
XM_011528811.2:c.2077T>C XP_011527113.1:p.Cys693Arg
XM_017027841.2:c.2104T>C XP_016883330.1:p.Cys702Arg
XM_017027842.2:c.2041T>C XP_016883331.1:p.Cys681Arg
XM_017027843.1:c.2038T>C XP_016883332.1:p.Cys680Arg
XM_017027844.2:c.1996T>C XP_016883333.1:p.Cys666Arg
XM_017027845.1:c.1069T>C XP_016883334.1:p.Cys357Arg
NM_004518.6:c.1969T>C NP_004509.2:p.Cys657Arg
NM_172106.3:c.1999T>C NP_742104.1:p.Cys667Arg
NM_172107.4:c.2053T>C MANE Select NP_742105.1:p.Cys685Arg
NM_172108.5:c.1960T>C NP_742106.1:p.Cys654Arg
NM_001382235.1:c.2107T>C NP_001369164.1:p.Cys703Arg