Canonical Allele Identifier: CA9958084
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 279817
dbSNP Id: rs377227909

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63406886C>A , CM000682.2:g.63406886C>A GRCh38
NC_000020.10:g.62038239C>A , CM000682.1:g.62038239C>A GRCh37
NC_000020.9:g.61508683C>A NCBI36
NG_009004.1:g.70755G>T
NG_009004.2:g.70755G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706989.1:c.2431G>T ENSP00000516702.1:p.Val811Leu
ENST00000359125.7:c.2377G>T MANE Select ENSP00000352035.2:p.Val793Leu
ENST00000637193.1:c.1774G>T ENSP00000490734.1:p.Val592Leu
ENST00000344462.8:c.2284G>T ENSP00000339611.4:p.Val762Leu
ENST00000357249.6:c.1945G>T ENSP00000349789.3:p.Val649Leu
ENST00000359125.6:c.2377G>T ENSP00000352035.2:p.Val793Leu
ENST00000360480.7:c.2293G>T ENSP00000353668.3:p.Val765Leu
ENST00000370224.5:c.2241+160G>T ENSP00000359244.2:n.2241+160G>T
ENST00000625514.2:c.2205+160G>T ENSP00000486040.1:n.2205+160G>T
ENST00000626839.2:c.2323G>T ENSP00000486706.1:p.Val775Leu
ENST00000629241.2:c.2133+160G>T ENSP00000487142.1:n.2133+160G>T
ENST00000629676.2:c.1680-6043G>T ENSP00000486194.1:n.1680-6043G>T
NM_004518.4:c.2293G>T NP_004509.2:p.Val765Leu
NM_172106.1:c.2323G>T NP_742104.1:p.Val775Leu
NM_172107.2:c.2377G>T NP_742105.1:p.Val793Leu
NM_172108.3:c.2284G>T NP_742106.1:p.Val762Leu
XM_006723787.1:c.2419G>T XP_006723850.1:p.Val807Leu
XM_011528807.1:c.2485G>T XP_011527109.1:p.Val829Leu
XM_011528808.1:c.2482G>T XP_011527110.1:p.Val828Leu
XM_011528809.1:c.2455G>T XP_011527111.1:p.Val819Leu
XM_011528810.1:c.2431G>T XP_011527112.1:p.Val811Leu
XM_011528811.1:c.2401G>T XP_011527113.1:p.Val801Leu
XM_011528812.1:c.2374G>T XP_011527114.1:p.Val792Leu
XM_011528813.1:c.2359G>T XP_011527115.1:p.Val787Leu
XM_011528814.1:c.1966G>T XP_011527116.1:p.Val656Leu
NM_004518.5:c.2293G>T NP_004509.2:p.Val765Leu
NM_172106.2:c.2323G>T NP_742104.1:p.Val775Leu
NM_172107.3:c.2377G>T NP_742105.1:p.Val793Leu
NM_172108.4:c.2284G>T NP_742106.1:p.Val762Leu
XM_011528810.2:c.2431G>T XP_011527112.1:p.Val811Leu
XM_011528811.2:c.2401G>T XP_011527113.1:p.Val801Leu
XM_017027841.2:c.2428G>T XP_016883330.1:p.Val810Leu
XM_017027842.2:c.2365G>T XP_016883331.1:p.Val789Leu
XM_017027843.1:c.2362G>T XP_016883332.1:p.Val788Leu
XM_017027844.2:c.2320G>T XP_016883333.1:p.Val774Leu
XM_017027845.1:c.1393G>T XP_016883334.1:p.Val465Leu
NM_004518.6:c.2293G>T NP_004509.2:p.Val765Leu
NM_172106.3:c.2323G>T NP_742104.1:p.Val775Leu
NM_172107.4:c.2377G>T MANE Select NP_742105.1:p.Val793Leu
NM_172108.5:c.2284G>T NP_742106.1:p.Val762Leu
NM_001382235.1:c.2431G>T NP_001369164.1:p.Val811Leu