Canonical Allele Identifier: CA342468
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21761
ClinVar RCV Id: RCV000678057
dbSNP Id: rs118192224
MyVariant Identifiers: chr20:g.62050985G>A (hg19) chr20:g.63419632G>A (hg38)
PubMed: PMID:14985406 PMID:20437616
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63419632G>A , CM000682.2:g.63419632G>A GRCh38
NC_000020.10:g.62050985G>A , CM000682.1:g.62050985G>A GRCh37
NC_000020.9:g.61521429G>A NCBI36
NG_009004.1:g.58009C>T
NG_009004.2:g.58009C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000706989.1:c.1248-4506C>T ENSP00000516702.1:n.1248-4506C>T
ENST00000359125.7:c.1288C>T MANE Select ENSP00000352035.2:p.Pro430Ser
ENST00000637193.1:c.699-4506C>T ENSP00000490734.1:n.699-4506C>T
ENST00000637584.1:n.74+4455C>T
ENST00000344462.8:c.1248-4542C>T ENSP00000339611.4:n.1248-4542C>T
ENST00000357249.6:c.906-4542C>T ENSP00000349789.3:n.906-4542C>T
ENST00000359125.6:c.1288C>T ENSP00000352035.2:p.Pro430Ser
ENST00000360480.7:c.1218-4506C>T ENSP00000353668.3:n.1218-4506C>T
ENST00000370224.5:c.1218-4506C>T ENSP00000359244.2:n.1218-4506C>T
ENST00000625514.2:c.1218-4542C>T ENSP00000486040.1:n.1218-4542C>T
ENST00000626839.2:c.1248-4506C>T ENSP00000486706.1:n.1248-4506C>T
ENST00000627221.2:c.362-4506C>T
ENST00000629241.2:c.1218-4506C>T ENSP00000487142.1:n.1218-4506C>T
ENST00000629676.2:c.1218-4506C>T ENSP00000486194.1:n.1218-4506C>T
NM_004518.4:c.1218-4506C>T NP_004509.2:n.1218-4506C>T
NM_172106.1:c.1248-4506C>T NP_742104.1:n.1248-4506C>T
NM_172107.2:c.1288C>T NP_742105.1:p.Pro430Ser
NM_172108.3:c.1248-4542C>T NP_742106.1:n.1248-4542C>T
XM_006723787.1:c.1288C>T XP_006723850.1:p.Pro430Ser
XM_011528807.1:c.1288C>T XP_011527109.1:p.Pro430Ser
XM_011528808.1:c.1288C>T XP_011527110.1:p.Pro430Ser
XM_011528809.1:c.1258C>T XP_011527111.1:p.Pro420Ser
XM_011528810.1:c.1248-4506C>T XP_011527112.1:n.1248-4506C>T
XM_011528811.1:c.1218-4506C>T XP_011527113.1:n.1218-4506C>T
XM_011528812.1:c.1288C>T XP_011527114.1:p.Pro430Ser
XM_011528813.1:c.1162C>T XP_011527115.1:p.Pro388Ser
XM_011528814.1:c.769C>T XP_011527116.1:p.Pro257Ser
XM_011528815.1:c.1288C>T XP_011527117.1:p.Pro430Ser
NM_004518.5:c.1218-4506C>T NP_004509.2:n.1218-4506C>T
NM_172106.2:c.1248-4506C>T NP_742104.1:n.1248-4506C>T
NM_172107.3:c.1288C>T NP_742105.1:p.Pro430Ser
NM_172108.4:c.1248-4542C>T NP_742106.1:n.1248-4542C>T
XM_011528810.2:c.1248-4506C>T XP_011527112.1:n.1248-4506C>T
XM_011528811.2:c.1218-4506C>T XP_011527113.1:n.1218-4506C>T
XM_017027841.2:c.1248-4506C>T XP_016883330.1:n.1248-4506C>T
XM_017027842.2:c.1248-4506C>T XP_016883331.1:n.1248-4506C>T
XM_017027843.1:c.1179-4506C>T XP_016883332.1:n.1179-4506C>T
XM_017027844.2:c.1248-4506C>T XP_016883333.1:n.1248-4506C>T
XM_017027845.1:c.196C>T XP_016883334.1:p.Pro66Ser
NM_004518.6:c.1218-4506C>T NP_004509.2:n.1218-4506C>T
NM_172106.3:c.1248-4506C>T NP_742104.1:n.1248-4506C>T
NM_172107.4:c.1288C>T MANE Select NP_742105.1:p.Pro430Ser
NM_172108.5:c.1248-4542C>T NP_742106.1:n.1248-4542C>T
NM_001382235.1:c.1248-4506C>T NP_001369164.1:n.1248-4506C>T
Search 100 bp 5'
Search 100 bp 3'