Canonical Allele Identifier: CA9958133
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 840292
ClinVar RCV Id: RCV001042246
dbSNP Id: rs368549458

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63407084C>T , CM000682.2:g.63407084C>T GRCh38
NC_000020.10:g.62038437C>T , CM000682.1:g.62038437C>T GRCh37
NC_000020.9:g.61508881C>T NCBI36
NG_009004.1:g.70557G>A
NG_009004.2:g.70557G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706989.1:c.2233G>A ENSP00000516702.1:p.Gly745Ser
ENST00000359125.7:c.2179G>A MANE Select ENSP00000352035.2:p.Gly727Ser
ENST00000637193.1:c.1576G>A ENSP00000490734.1:p.Gly526Ser
ENST00000344462.8:c.2086G>A ENSP00000339611.4:p.Gly696Ser
ENST00000357249.6:c.1747G>A ENSP00000349789.3:p.Gly583Ser
ENST00000359125.6:c.2179G>A ENSP00000352035.2:p.Gly727Ser
ENST00000360480.7:c.2095G>A ENSP00000353668.3:p.Gly699Ser
ENST00000370224.5:c.2203G>A ENSP00000359244.2:p.Gly735Ser
ENST00000625514.2:c.2167G>A ENSP00000486040.1:p.Gly723Ser
ENST00000626839.2:c.2125G>A ENSP00000486706.1:p.Gly709Ser
ENST00000629241.2:c.2095G>A ENSP00000487142.1:p.Gly699Ser
ENST00000629676.2:c.1680-6241G>A ENSP00000486194.1:n.1680-6241G>A
NM_004518.4:c.2095G>A NP_004509.2:p.Gly699Ser
NM_172106.1:c.2125G>A NP_742104.1:p.Gly709Ser
NM_172107.2:c.2179G>A NP_742105.1:p.Gly727Ser
NM_172108.3:c.2086G>A NP_742106.1:p.Gly696Ser
XM_006723787.1:c.2221G>A XP_006723850.1:p.Gly741Ser
XM_011528807.1:c.2287G>A XP_011527109.1:p.Gly763Ser
XM_011528808.1:c.2284G>A XP_011527110.1:p.Gly762Ser
XM_011528809.1:c.2257G>A XP_011527111.1:p.Gly753Ser
XM_011528810.1:c.2233G>A XP_011527112.1:p.Gly745Ser
XM_011528811.1:c.2203G>A XP_011527113.1:p.Gly735Ser
XM_011528812.1:c.2176G>A XP_011527114.1:p.Gly726Ser
XM_011528813.1:c.2161G>A XP_011527115.1:p.Gly721Ser
XM_011528814.1:c.1768G>A XP_011527116.1:p.Gly590Ser
NM_004518.5:c.2095G>A NP_004509.2:p.Gly699Ser
NM_172106.2:c.2125G>A NP_742104.1:p.Gly709Ser
NM_172107.3:c.2179G>A NP_742105.1:p.Gly727Ser
NM_172108.4:c.2086G>A NP_742106.1:p.Gly696Ser
XM_011528810.2:c.2233G>A XP_011527112.1:p.Gly745Ser
XM_011528811.2:c.2203G>A XP_011527113.1:p.Gly735Ser
XM_017027841.2:c.2230G>A XP_016883330.1:p.Gly744Ser
XM_017027842.2:c.2167G>A XP_016883331.1:p.Gly723Ser
XM_017027843.1:c.2164G>A XP_016883332.1:p.Gly722Ser
XM_017027844.2:c.2122G>A XP_016883333.1:p.Gly708Ser
XM_017027845.1:c.1195G>A XP_016883334.1:p.Gly399Ser
NM_004518.6:c.2095G>A NP_004509.2:p.Gly699Ser
NM_172106.3:c.2125G>A NP_742104.1:p.Gly709Ser
NM_172107.4:c.2179G>A MANE Select NP_742105.1:p.Gly727Ser
NM_172108.5:c.2086G>A NP_742106.1:p.Gly696Ser
NM_001382235.1:c.2233G>A NP_001369164.1:p.Gly745Ser