Canonical Allele Identifier: CA342478
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21771
ClinVar RCV Id: RCV000678064 RCV003315298
dbSNP Id: rs118192240
MyVariant Identifiers: chr20:g.62038706A>C (hg19) chr20:g.63407353A>C (hg38)
PubMed: PMID:14985406 PMID:20437616 PMID:25982755
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63407353A>C , CM000682.2:g.63407353A>C GRCh38
NC_000020.10:g.62038706A>C , CM000682.1:g.62038706A>C GRCh37
NC_000020.9:g.61509150A>C NCBI36
NG_009004.1:g.70288T>G
NG_009004.2:g.70288T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000706989.1:c.1964T>G ENSP00000516702.1:p.Leu655Arg
ENST00000359125.7:c.1910T>G MANE Select ENSP00000352035.2:p.Leu637Arg
ENST00000637193.1:c.1307T>G ENSP00000490734.1:p.Leu436Arg
ENST00000637338.1:n.67T>G
ENST00000344462.8:c.1817T>G ENSP00000339611.4:p.Leu606Arg
ENST00000357249.6:c.1478T>G ENSP00000349789.3:p.Leu493Arg
ENST00000359125.6:c.1910T>G ENSP00000352035.2:p.Leu637Arg
ENST00000360480.7:c.1826T>G ENSP00000353668.3:p.Leu609Arg
ENST00000370224.5:c.1934T>G ENSP00000359244.2:p.Leu645Arg
ENST00000625514.2:c.1898T>G ENSP00000486040.1:p.Leu633Arg
ENST00000626839.2:c.1856T>G ENSP00000486706.1:p.Leu619Arg
ENST00000629241.2:c.1826T>G ENSP00000487142.1:p.Leu609Arg
ENST00000629676.2:c.1679+6097T>G ENSP00000486194.1:n.1679+6097T>G
NM_004518.4:c.1826T>G NP_004509.2:p.Leu609Arg
NM_172106.1:c.1856T>G NP_742104.1:p.Leu619Arg
NM_172107.2:c.1910T>G NP_742105.1:p.Leu637Arg
NM_172108.3:c.1817T>G NP_742106.1:p.Leu606Arg
XM_006723787.1:c.1952T>G XP_006723850.1:p.Leu651Arg
XM_011528807.1:c.2018T>G XP_011527109.1:p.Leu673Arg
XM_011528808.1:c.2015T>G XP_011527110.1:p.Leu672Arg
XM_011528809.1:c.1988T>G XP_011527111.1:p.Leu663Arg
XM_011528810.1:c.1964T>G XP_011527112.1:p.Leu655Arg
XM_011528811.1:c.1934T>G XP_011527113.1:p.Leu645Arg
XM_011528812.1:c.1907T>G XP_011527114.1:p.Leu636Arg
XM_011528813.1:c.1892T>G XP_011527115.1:p.Leu631Arg
XM_011528814.1:c.1499T>G XP_011527116.1:p.Leu500Arg
NM_004518.5:c.1826T>G NP_004509.2:p.Leu609Arg
NM_172106.2:c.1856T>G NP_742104.1:p.Leu619Arg
NM_172107.3:c.1910T>G NP_742105.1:p.Leu637Arg
NM_172108.4:c.1817T>G NP_742106.1:p.Leu606Arg
XM_011528810.2:c.1964T>G XP_011527112.1:p.Leu655Arg
XM_011528811.2:c.1934T>G XP_011527113.1:p.Leu645Arg
XM_017027841.2:c.1961T>G XP_016883330.1:p.Leu654Arg
XM_017027842.2:c.1898T>G XP_016883331.1:p.Leu633Arg
XM_017027843.1:c.1895T>G XP_016883332.1:p.Leu632Arg
XM_017027844.2:c.1853T>G XP_016883333.1:p.Leu618Arg
XM_017027845.1:c.926T>G XP_016883334.1:p.Leu309Arg
NM_004518.6:c.1826T>G NP_004509.2:p.Leu609Arg
NM_172106.3:c.1856T>G NP_742104.1:p.Leu619Arg
NM_172107.4:c.1910T>G MANE Select NP_742105.1:p.Leu637Arg
NM_172108.5:c.1817T>G NP_742106.1:p.Leu606Arg
NM_001382235.1:c.1964T>G NP_001369164.1:p.Leu655Arg
Search 100 bp 5'
Search 100 bp 3'