Canonical Allele Identifier: CA342467
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21760
ClinVar RCV Id: RCV000678056
dbSNP Id: rs118192223
MyVariant Identifiers: chr20:g.62059718A>C (hg19) chr20:g.63428365A>C (hg38)
PubMed: PMID:10774989 PMID:17129708 PMID:20437616
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63428365A>C , CM000682.2:g.63428365A>C GRCh38
NC_000020.10:g.62059718A>C , CM000682.1:g.62059718A>C GRCh37
NC_000020.9:g.61530162A>C NCBI36
NG_009004.1:g.49276T>G
NG_009004.2:g.49276T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000706989.1:c.1217+2T>G ENSP00000516702.1:n.1217+2T>G
ENST00000359125.7:c.1217+2T>G MANE Select ENSP00000352035.2:n.1217+2T>G
ENST00000637193.1:c.668+2T>G ENSP00000490734.1:n.668+2T>G
ENST00000637632.1:n.56+2T>G
ENST00000344462.8:c.1217+2T>G ENSP00000339611.4:n.1217+2T>G
ENST00000357249.6:c.875+2T>G ENSP00000349789.3:n.875+2T>G
ENST00000359125.6:c.1217+2T>G ENSP00000352035.2:n.1217+2T>G
ENST00000360480.7:c.1187+2T>G ENSP00000353668.3:n.1187+2T>G
ENST00000370221.3:n.1343+2T>G
ENST00000370224.5:c.1187+2T>G ENSP00000359244.2:n.1187+2T>G
ENST00000625514.2:c.1187+2T>G ENSP00000486040.1:n.1187+2T>G
ENST00000626839.2:c.1217+2T>G ENSP00000486706.1:n.1217+2T>G
ENST00000627221.2:c.331+2T>G
ENST00000629241.2:c.1187+2T>G ENSP00000487142.1:n.1187+2T>G
ENST00000629676.2:c.1187+2T>G ENSP00000486194.1:n.1187+2T>G
NM_004518.4:c.1187+2T>G NP_004509.2:n.1187+2T>G
NM_172106.1:c.1217+2T>G NP_742104.1:n.1217+2T>G
NM_172107.2:c.1217+2T>G NP_742105.1:n.1217+2T>G
NM_172108.3:c.1217+2T>G NP_742106.1:n.1217+2T>G
XM_006723787.1:c.1217+2T>G XP_006723850.1:n.1217+2T>G
XM_011528807.1:c.1217+2T>G XP_011527109.1:n.1217+2T>G
XM_011528808.1:c.1217+2T>G XP_011527110.1:n.1217+2T>G
XM_011528809.1:c.1187+2T>G XP_011527111.1:n.1187+2T>G
XM_011528810.1:c.1217+2T>G XP_011527112.1:n.1217+2T>G
XM_011528811.1:c.1187+2T>G XP_011527113.1:n.1187+2T>G
XM_011528812.1:c.1217+2T>G XP_011527114.1:n.1217+2T>G
XM_011528813.1:c.1091+2T>G XP_011527115.1:n.1091+2T>G
XM_011528814.1:c.698+2T>G XP_011527116.1:n.698+2T>G
XM_011528815.1:c.1217+2T>G XP_011527117.1:n.1217+2T>G
NM_004518.5:c.1187+2T>G NP_004509.2:n.1187+2T>G
NM_172106.2:c.1217+2T>G NP_742104.1:n.1217+2T>G
NM_172107.3:c.1217+2T>G NP_742105.1:n.1217+2T>G
NM_172108.4:c.1217+2T>G NP_742106.1:n.1217+2T>G
XM_011528810.2:c.1217+2T>G XP_011527112.1:n.1217+2T>G
XM_011528811.2:c.1187+2T>G XP_011527113.1:n.1187+2T>G
XM_017027841.2:c.1217+2T>G XP_016883330.1:n.1217+2T>G
XM_017027842.2:c.1217+2T>G XP_016883331.1:n.1217+2T>G
XM_017027843.1:c.1148+2T>G XP_016883332.1:n.1148+2T>G
XM_017027844.2:c.1217+2T>G XP_016883333.1:n.1217+2T>G
NM_004518.6:c.1187+2T>G NP_004509.2:n.1187+2T>G
NM_172106.3:c.1217+2T>G NP_742104.1:n.1217+2T>G
NM_172107.4:c.1217+2T>G MANE Select NP_742105.1:n.1217+2T>G
NM_172108.5:c.1217+2T>G NP_742106.1:n.1217+2T>G
NM_001382235.1:c.1217+2T>G NP_001369164.1:n.1217+2T>G
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