Canonical Allele Identifier: CA9958166
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 582756
ClinVar RCV Id: RCV000706906
dbSNP Id: rs371851085

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63407234G>A , CM000682.2:g.63407234G>A GRCh38
NC_000020.10:g.62038587G>A , CM000682.1:g.62038587G>A GRCh37
NC_000020.9:g.61509031G>A NCBI36
NG_009004.1:g.70407C>T
NG_009004.2:g.70407C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706989.1:c.2083C>T ENSP00000516702.1:p.Arg695Trp
ENST00000359125.7:c.2029C>T MANE Select ENSP00000352035.2:p.Arg677Trp
ENST00000637193.1:c.1426C>T ENSP00000490734.1:p.Arg476Trp
ENST00000344462.8:c.1936C>T ENSP00000339611.4:p.Arg646Trp
ENST00000357249.6:c.1597C>T ENSP00000349789.3:p.Arg533Trp
ENST00000359125.6:c.2029C>T ENSP00000352035.2:p.Arg677Trp
ENST00000360480.7:c.1945C>T ENSP00000353668.3:p.Arg649Trp
ENST00000370224.5:c.2053C>T ENSP00000359244.2:p.Arg685Trp
ENST00000625514.2:c.2017C>T ENSP00000486040.1:p.Arg673Trp
ENST00000626839.2:c.1975C>T ENSP00000486706.1:p.Arg659Trp
ENST00000629241.2:c.1945C>T ENSP00000487142.1:p.Arg649Trp
ENST00000629676.2:c.1679+6216C>T ENSP00000486194.1:n.1679+6216C>T
NM_004518.4:c.1945C>T NP_004509.2:p.Arg649Trp
NM_172106.1:c.1975C>T NP_742104.1:p.Arg659Trp
NM_172107.2:c.2029C>T NP_742105.1:p.Arg677Trp
NM_172108.3:c.1936C>T NP_742106.1:p.Arg646Trp
XM_006723787.1:c.2071C>T XP_006723850.1:p.Arg691Trp
XM_011528807.1:c.2137C>T XP_011527109.1:p.Arg713Trp
XM_011528808.1:c.2134C>T XP_011527110.1:p.Arg712Trp
XM_011528809.1:c.2107C>T XP_011527111.1:p.Arg703Trp
XM_011528810.1:c.2083C>T XP_011527112.1:p.Arg695Trp
XM_011528811.1:c.2053C>T XP_011527113.1:p.Arg685Trp
XM_011528812.1:c.2026C>T XP_011527114.1:p.Arg676Trp
XM_011528813.1:c.2011C>T XP_011527115.1:p.Arg671Trp
XM_011528814.1:c.1618C>T XP_011527116.1:p.Arg540Trp
NM_004518.5:c.1945C>T NP_004509.2:p.Arg649Trp
NM_172106.2:c.1975C>T NP_742104.1:p.Arg659Trp
NM_172107.3:c.2029C>T NP_742105.1:p.Arg677Trp
NM_172108.4:c.1936C>T NP_742106.1:p.Arg646Trp
XM_011528810.2:c.2083C>T XP_011527112.1:p.Arg695Trp
XM_011528811.2:c.2053C>T XP_011527113.1:p.Arg685Trp
XM_017027841.2:c.2080C>T XP_016883330.1:p.Arg694Trp
XM_017027842.2:c.2017C>T XP_016883331.1:p.Arg673Trp
XM_017027843.1:c.2014C>T XP_016883332.1:p.Arg672Trp
XM_017027844.2:c.1972C>T XP_016883333.1:p.Arg658Trp
XM_017027845.1:c.1045C>T XP_016883334.1:p.Arg349Trp
NM_004518.6:c.1945C>T NP_004509.2:p.Arg649Trp
NM_172106.3:c.1975C>T NP_742104.1:p.Arg659Trp
NM_172107.4:c.2029C>T MANE Select NP_742105.1:p.Arg677Trp
NM_172108.5:c.1936C>T NP_742106.1:p.Arg646Trp
NM_001382235.1:c.2083C>T NP_001369164.1:p.Arg695Trp