Canonical Allele Identifier: CA342508
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21788
ClinVar RCV Id: RCV000678079
dbSNP Id: rs118192195
MyVariant Identifiers: chr20:g.62078099C>A (hg19) chr20:g.63446746C>A (hg38)
PubMed: PMID:14534157 PMID:20437616
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63446746C>A , CM000682.2:g.63446746C>A GRCh38
NC_000020.10:g.62078099C>A , CM000682.1:g.62078099C>A GRCh37
NC_000020.9:g.61548543C>A NCBI36
NG_009004.1:g.30895G>T
NG_009004.2:g.30895G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000706989.1:c.387+1G>T ENSP00000516702.1:n.387+1G>T
ENST00000344425.8:c.387+1G>T ENSP00000345523.5:n.387+1G>T
ENST00000359125.7:c.387+1G>T MANE Select ENSP00000352035.2:n.387+1G>T
ENST00000636255.1:n.125+1G>T
ENST00000637193.1:c.-133+1G>T ENSP00000490734.1:n.-133+1G>T
ENST00000344425.7:c.387+1G>T ENSP00000345523.5:n.387+1G>T
ENST00000344462.8:c.387+1G>T ENSP00000339611.4:n.387+1G>T
ENST00000357249.6:c.45+1G>T ENSP00000349789.3:n.45+1G>T
ENST00000359125.6:c.387+1G>T ENSP00000352035.2:n.387+1G>T
ENST00000360480.7:c.387+1G>T ENSP00000353668.3:n.387+1G>T
ENST00000370221.3:n.513+1G>T
ENST00000370224.5:c.387+1G>T ENSP00000359244.2:n.387+1G>T
ENST00000625514.2:c.387+1G>T ENSP00000486040.1:n.387+1G>T
ENST00000626313.1:n.229+1G>T
ENST00000626839.2:c.387+1G>T ENSP00000486706.1:n.387+1G>T
ENST00000629241.2:c.387+1G>T ENSP00000487142.1:n.387+1G>T
ENST00000629676.2:c.387+1G>T ENSP00000486194.1:n.387+1G>T
NM_004518.4:c.387+1G>T NP_004509.2:n.387+1G>T
NM_172106.1:c.387+1G>T NP_742104.1:n.387+1G>T
NM_172107.2:c.387+1G>T NP_742105.1:n.387+1G>T
NM_172108.3:c.387+1G>T NP_742106.1:n.387+1G>T
NM_172109.1:c.387+1G>T NP_742107.1:n.387+1G>T
XM_006723787.1:c.387+1G>T XP_006723850.1:n.387+1G>T
XM_011528807.1:c.387+1G>T XP_011527109.1:n.387+1G>T
XM_011528808.1:c.387+1G>T XP_011527110.1:n.387+1G>T
XM_011528809.1:c.387+1G>T XP_011527111.1:n.387+1G>T
XM_011528810.1:c.387+1G>T XP_011527112.1:n.387+1G>T
XM_011528811.1:c.387+1G>T XP_011527113.1:n.387+1G>T
XM_011528812.1:c.387+1G>T XP_011527114.1:n.387+1G>T
XM_011528813.1:c.387+1G>T XP_011527115.1:n.387+1G>T
XM_011528815.1:c.387+1G>T XP_011527117.1:n.387+1G>T
XM_011528816.1:c.387+1G>T XP_011527118.1:n.387+1G>T
NM_004518.5:c.387+1G>T NP_004509.2:n.387+1G>T
NM_172106.2:c.387+1G>T NP_742104.1:n.387+1G>T
NM_172107.3:c.387+1G>T NP_742105.1:n.387+1G>T
NM_172108.4:c.387+1G>T NP_742106.1:n.387+1G>T
NM_172109.2:c.387+1G>T NP_742107.1:n.387+1G>T
XM_011528810.2:c.387+1G>T XP_011527112.1:n.387+1G>T
XM_011528811.2:c.387+1G>T XP_011527113.1:n.387+1G>T
XM_017027841.2:c.387+1G>T XP_016883330.1:n.387+1G>T
XM_017027842.2:c.387+1G>T XP_016883331.1:n.387+1G>T
XM_017027843.1:c.318+1G>T XP_016883332.1:n.318+1G>T
XM_017027844.2:c.387+1G>T XP_016883333.1:n.387+1G>T
NM_004518.6:c.387+1G>T NP_004509.2:n.387+1G>T
NM_172106.3:c.387+1G>T NP_742104.1:n.387+1G>T
NM_172107.4:c.387+1G>T MANE Select NP_742105.1:n.387+1G>T
NM_172108.5:c.387+1G>T NP_742106.1:n.387+1G>T
NM_172109.3:c.387+1G>T NP_742107.1:n.387+1G>T
NM_001382235.1:c.387+1G>T NP_001369164.1:n.387+1G>T
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