Canonical Allele Identifier: CA342506
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21786
ClinVar RCV Id: RCV000678077
dbSNP Id: rs118192193
MyVariant Identifiers: chr20:g.62078131T>C (hg19) chr20:g.63446778T>C (hg38)
PubMed: PMID:18006581 PMID:20437616
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63446778T>C , CM000682.2:g.63446778T>C GRCh38
NC_000020.10:g.62078131T>C , CM000682.1:g.62078131T>C GRCh37
NC_000020.9:g.61548575T>C NCBI36
NG_009004.1:g.30863A>G
NG_009004.2:g.30863A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000706989.1:c.356A>G ENSP00000516702.1:p.Glu119Gly
ENST00000344425.8:c.356A>G ENSP00000345523.5:p.Glu119Gly
ENST00000359125.7:c.356A>G MANE Select ENSP00000352035.2:p.Glu119Gly
ENST00000636065.1:n.142A>G
ENST00000636255.1:n.94A>G
ENST00000636623.1:n.117A>G
ENST00000637133.1:n.129A>G
ENST00000637193.1:c.-164A>G ENSP00000490734.1:n.-164A>G
ENST00000637772.1:n.89A>G
ENST00000637803.1:n.154A>G
ENST00000344425.7:c.356A>G ENSP00000345523.5:p.Glu119Gly
ENST00000344462.8:c.356A>G ENSP00000339611.4:p.Glu119Gly
ENST00000357249.6:c.14A>G ENSP00000349789.3:p.Glu5Gly
ENST00000359125.6:c.356A>G ENSP00000352035.2:p.Glu119Gly
ENST00000360480.7:c.356A>G ENSP00000353668.3:p.Glu119Gly
ENST00000370221.3:n.482A>G
ENST00000370224.5:c.356A>G ENSP00000359244.2:p.Glu119Gly
ENST00000625514.2:c.356A>G ENSP00000486040.1:p.Glu119Gly
ENST00000626313.1:n.198A>G
ENST00000626839.2:c.356A>G ENSP00000486706.1:p.Glu119Gly
ENST00000629241.2:c.356A>G ENSP00000487142.1:p.Glu119Gly
ENST00000629676.2:c.356A>G ENSP00000486194.1:p.Glu119Gly
NM_004518.4:c.356A>G NP_004509.2:p.Glu119Gly
NM_172106.1:c.356A>G NP_742104.1:p.Glu119Gly
NM_172107.2:c.356A>G NP_742105.1:p.Glu119Gly
NM_172108.3:c.356A>G NP_742106.1:p.Glu119Gly
NM_172109.1:c.356A>G NP_742107.1:p.Glu119Gly
XM_006723787.1:c.356A>G XP_006723850.1:p.Glu119Gly
XM_011528807.1:c.356A>G XP_011527109.1:p.Glu119Gly
XM_011528808.1:c.356A>G XP_011527110.1:p.Glu119Gly
XM_011528809.1:c.356A>G XP_011527111.1:p.Glu119Gly
XM_011528810.1:c.356A>G XP_011527112.1:p.Glu119Gly
XM_011528811.1:c.356A>G XP_011527113.1:p.Glu119Gly
XM_011528812.1:c.356A>G XP_011527114.1:p.Glu119Gly
XM_011528813.1:c.356A>G XP_011527115.1:p.Glu119Gly
XM_011528815.1:c.356A>G XP_011527117.1:p.Glu119Gly
XM_011528816.1:c.356A>G XP_011527118.1:p.Glu119Gly
NM_004518.5:c.356A>G NP_004509.2:p.Glu119Gly
NM_172106.2:c.356A>G NP_742104.1:p.Glu119Gly
NM_172107.3:c.356A>G NP_742105.1:p.Glu119Gly
NM_172108.4:c.356A>G NP_742106.1:p.Glu119Gly
NM_172109.2:c.356A>G NP_742107.1:p.Glu119Gly
XM_011528810.2:c.356A>G XP_011527112.1:p.Glu119Gly
XM_011528811.2:c.356A>G XP_011527113.1:p.Glu119Gly
XM_017027841.2:c.356A>G XP_016883330.1:p.Glu119Gly
XM_017027842.2:c.356A>G XP_016883331.1:p.Glu119Gly
XM_017027843.1:c.287A>G XP_016883332.1:p.Glu96Gly
XM_017027844.2:c.356A>G XP_016883333.1:p.Glu119Gly
NM_004518.6:c.356A>G NP_004509.2:p.Glu119Gly
NM_172106.3:c.356A>G NP_742104.1:p.Glu119Gly
NM_172107.4:c.356A>G MANE Select NP_742105.1:p.Glu119Gly
NM_172108.5:c.356A>G NP_742106.1:p.Glu119Gly
NM_172109.3:c.356A>G NP_742107.1:p.Glu119Gly
NM_001382235.1:c.356A>G NP_001369164.1:p.Glu119Gly
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