Canonical Allele Identifier: CA10654786
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 369800
ClinVar RCV Id: RCV003588622
dbSNP Id: rs1555853971
COSMIC: COSM1413093 COSM4785250 COSM4785251
MyVariant Identifiers: chr20:g.62045451T>C (hg19) chr20:g.63414098T>C (hg38)
PubMed: PMID:12754513 PMID:20437616 PMID:25959266
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63414098T>C , CM000682.2:g.63414098T>C GRCh38
NC_000020.10:g.62045451T>C , CM000682.1:g.62045451T>C GRCh37
NC_000020.9:g.61515895T>C NCBI36
NG_009004.1:g.63543A>G
NG_009004.2:g.63543A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000706989.1:c.1567A>G ENSP00000516702.1:p.Arg523Gly
ENST00000359125.7:c.1621A>G MANE Select ENSP00000352035.2:p.Arg541Gly
ENST00000637193.1:c.1018A>G ENSP00000490734.1:p.Arg340Gly
ENST00000344462.8:c.1528A>G ENSP00000339611.4:p.Arg510Gly
ENST00000357249.6:c.1189A>G ENSP00000349789.3:p.Arg397Gly
ENST00000359125.6:c.1621A>G ENSP00000352035.2:p.Arg541Gly
ENST00000360480.7:c.1537A>G ENSP00000353668.3:p.Arg513Gly
ENST00000370224.5:c.1537A>G ENSP00000359244.2:p.Arg513Gly
ENST00000625514.2:c.1501A>G ENSP00000486040.1:p.Arg501Gly
ENST00000626839.2:c.1567A>G ENSP00000486706.1:p.Arg523Gly
ENST00000627221.2:c.678A>G
ENST00000629241.2:c.1537A>G ENSP00000487142.1:p.Arg513Gly
ENST00000629318.1:c.229A>G ENSP00000487384.1:p.Arg77Gly
ENST00000629676.2:c.1537A>G ENSP00000486194.1:p.Arg513Gly
NM_004518.4:c.1537A>G NP_004509.2:p.Arg513Gly
NM_172106.1:c.1567A>G NP_742104.1:p.Arg523Gly
NM_172107.2:c.1621A>G NP_742105.1:p.Arg541Gly
NM_172108.3:c.1528A>G NP_742106.1:p.Arg510Gly
XM_006723787.1:c.1621A>G XP_006723850.1:p.Arg541Gly
XM_011528807.1:c.1621A>G XP_011527109.1:p.Arg541Gly
XM_011528808.1:c.1618A>G XP_011527110.1:p.Arg540Gly
XM_011528809.1:c.1591A>G XP_011527111.1:p.Arg531Gly
XM_011528810.1:c.1567A>G XP_011527112.1:p.Arg523Gly
XM_011528811.1:c.1537A>G XP_011527113.1:p.Arg513Gly
XM_011528812.1:c.1618A>G XP_011527114.1:p.Arg540Gly
XM_011528813.1:c.1495A>G XP_011527115.1:p.Arg499Gly
XM_011528814.1:c.1102A>G XP_011527116.1:p.Arg368Gly
XM_011528815.1:c.1621A>G XP_011527117.1:p.Arg541Gly
NM_004518.5:c.1537A>G NP_004509.2:p.Arg513Gly
NM_172106.2:c.1567A>G NP_742104.1:p.Arg523Gly
NM_172107.3:c.1621A>G NP_742105.1:p.Arg541Gly
NM_172108.4:c.1528A>G NP_742106.1:p.Arg510Gly
XM_011528810.2:c.1567A>G XP_011527112.1:p.Arg523Gly
XM_011528811.2:c.1537A>G XP_011527113.1:p.Arg513Gly
XM_017027841.2:c.1564A>G XP_016883330.1:p.Arg522Gly
XM_017027842.2:c.1567A>G XP_016883331.1:p.Arg523Gly
XM_017027843.1:c.1498A>G XP_016883332.1:p.Arg500Gly
XM_017027844.2:c.1564A>G XP_016883333.1:p.Arg522Gly
XM_017027845.1:c.529A>G XP_016883334.1:p.Arg177Gly
NM_004518.6:c.1537A>G NP_004509.2:p.Arg513Gly
NM_172106.3:c.1567A>G NP_742104.1:p.Arg523Gly
NM_172107.4:c.1621A>G MANE Select NP_742105.1:p.Arg541Gly
NM_172108.5:c.1528A>G NP_742106.1:p.Arg510Gly
NM_001382235.1:c.1567A>G NP_001369164.1:p.Arg523Gly
Search 100 bp 5'
Search 100 bp 3'