Canonical Allele Identifier: CA342516
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21793
ClinVar RCV Id: RCV000678086 RCV001221931
dbSNP Id: rs118192201
gnomAD v4: 20-63444727-T-C
MyVariant Identifiers: chr20:g.62076080T>C (hg19) chr20:g.63444727T>C (hg38)
PubMed: PMID:14534157 PMID:20437616
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63444727T>C , CM000682.2:g.63444727T>C GRCh38
NC_000020.10:g.62076080T>C , CM000682.1:g.62076080T>C GRCh37
NC_000020.9:g.61546524T>C NCBI36
NG_009004.1:g.32914A>G
NG_009004.2:g.32914A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000706989.1:c.622A>G ENSP00000516702.1:p.Met208Val
ENST00000344425.8:c.622A>G ENSP00000345523.5:p.Met208Val
ENST00000359125.7:c.622A>G MANE Select ENSP00000352035.2:p.Met208Val
ENST00000636255.1:n.360A>G
ENST00000636873.1:n.16A>G
ENST00000637193.1:c.103A>G ENSP00000490734.1:p.Met35Val
ENST00000344425.7:c.622A>G ENSP00000345523.5:p.Met208Val
ENST00000344462.8:c.622A>G ENSP00000339611.4:p.Met208Val
ENST00000357249.6:c.280A>G ENSP00000349789.3:p.Met94Val
ENST00000359125.6:c.622A>G ENSP00000352035.2:p.Met208Val
ENST00000360480.7:c.622A>G ENSP00000353668.3:p.Met208Val
ENST00000370221.3:n.748A>G
ENST00000370224.5:c.622A>G ENSP00000359244.2:p.Met208Val
ENST00000625514.2:c.622A>G ENSP00000486040.1:p.Met208Val
ENST00000626313.1:n.464A>G
ENST00000626839.2:c.622A>G ENSP00000486706.1:p.Met208Val
ENST00000629241.2:c.622A>G ENSP00000487142.1:p.Met208Val
ENST00000629498.2:c.43A>G ENSP00000486509.1:p.Met15Val
ENST00000629676.2:c.622A>G ENSP00000486194.1:p.Met208Val
ENST00000630274.2:n.447A>G
NM_004518.4:c.622A>G NP_004509.2:p.Met208Val
NM_172106.1:c.622A>G NP_742104.1:p.Met208Val
NM_172107.2:c.622A>G NP_742105.1:p.Met208Val
NM_172108.3:c.622A>G NP_742106.1:p.Met208Val
NM_172109.1:c.622A>G NP_742107.1:p.Met208Val
XM_006723787.1:c.622A>G XP_006723850.1:p.Met208Val
XM_011528807.1:c.622A>G XP_011527109.1:p.Met208Val
XM_011528808.1:c.622A>G XP_011527110.1:p.Met208Val
XM_011528809.1:c.622A>G XP_011527111.1:p.Met208Val
XM_011528810.1:c.622A>G XP_011527112.1:p.Met208Val
XM_011528811.1:c.622A>G XP_011527113.1:p.Met208Val
XM_011528812.1:c.622A>G XP_011527114.1:p.Met208Val
XM_011528813.1:c.622A>G XP_011527115.1:p.Met208Val
XM_011528814.1:c.103A>G XP_011527116.1:p.Met35Val
XM_011528815.1:c.622A>G XP_011527117.1:p.Met208Val
XM_011528816.1:c.622A>G XP_011527118.1:p.Met208Val
NM_004518.5:c.622A>G NP_004509.2:p.Met208Val
NM_172106.2:c.622A>G NP_742104.1:p.Met208Val
NM_172107.3:c.622A>G NP_742105.1:p.Met208Val
NM_172108.4:c.622A>G NP_742106.1:p.Met208Val
NM_172109.2:c.622A>G NP_742107.1:p.Met208Val
XM_011528810.2:c.622A>G XP_011527112.1:p.Met208Val
XM_011528811.2:c.622A>G XP_011527113.1:p.Met208Val
XM_017027841.2:c.622A>G XP_016883330.1:p.Met208Val
XM_017027842.2:c.622A>G XP_016883331.1:p.Met208Val
XM_017027843.1:c.553A>G XP_016883332.1:p.Met185Val
XM_017027844.2:c.622A>G XP_016883333.1:p.Met208Val
NM_004518.6:c.622A>G NP_004509.2:p.Met208Val
NM_172106.3:c.622A>G NP_742104.1:p.Met208Val
NM_172107.4:c.622A>G MANE Select NP_742105.1:p.Met208Val
NM_172108.5:c.622A>G NP_742106.1:p.Met208Val
NM_172109.3:c.622A>G NP_742107.1:p.Met208Val
NM_001382235.1:c.622A>G NP_001369164.1:p.Met208Val
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