Canonical Allele Identifier: CA342519
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21796
ClinVar RCV Id: RCV000678088
dbSNP Id: rs118192187
MyVariant Identifiers: chr20:g.62103751_62103754del (hg19) chr20:g.63472398_63472401del (hg38)
PubMed: PMID:19818940 PMID:20437616 PMID:25982755
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63472398_63472401del , CM000682.2:g.63472398_63472401del GRCh38
NC_000020.10:g.62103751_62103754del , CM000682.1:g.62103751_62103754del GRCh37
NC_000020.9:g.61574195_61574198del NCBI36
NG_009004.1:g.5242_5245del
NG_009004.2:g.5242_5245del

Transcript Alleles

HGVS Amino-acid change
ENST00000706989.1:c.65_68del ENSP00000516702.1:p.Val22AlafsTer19
ENST00000344425.8:c.65_68del ENSP00000345523.5:p.Val22AlafsTer19
ENST00000359125.7:c.65_68del MANE Select ENSP00000352035.2:p.Val22AlafsTer19
ENST00000344425.7:c.65_68del ENSP00000345523.5:p.Val22AlafsTer19
ENST00000344462.8:c.65_68del ENSP00000339611.4:p.Val22AlafsTer19
ENST00000359125.6:c.65_68del ENSP00000352035.2:p.Val22AlafsTer19
ENST00000360480.7:c.65_68del ENSP00000353668.3:p.Val22AlafsTer19
ENST00000370221.3:n.191_194del
ENST00000370224.5:c.65_68del ENSP00000359244.2:p.Val22AlafsTer19
ENST00000625514.2:c.65_68del ENSP00000486040.1:p.Val22AlafsTer19
ENST00000626839.2:c.65_68del ENSP00000486706.1:p.Val22AlafsTer19
ENST00000629241.2:c.65_68del ENSP00000487142.1:p.Val22AlafsTer19
ENST00000629676.2:c.65_68del ENSP00000486194.1:p.Val22AlafsTer19
NM_004518.4:c.65_68del NP_004509.2:p.Val22AlafsTer19
NM_172106.1:c.65_68del NP_742104.1:p.Val22AlafsTer19
NM_172107.2:c.65_68del NP_742105.1:p.Val22AlafsTer19
NM_172108.3:c.65_68del NP_742106.1:p.Val22AlafsTer19
NM_172109.1:c.65_68del NP_742107.1:p.Val22AlafsTer19
XM_006723787.1:c.65_68del XP_006723850.1:p.Val22AlafsTer19
XM_011528807.1:c.65_68del XP_011527109.1:p.Val22AlafsTer19
XM_011528808.1:c.65_68del XP_011527110.1:p.Val22AlafsTer19
XM_011528809.1:c.65_68del XP_011527111.1:p.Val22AlafsTer19
XM_011528810.1:c.65_68del XP_011527112.1:p.Val22AlafsTer19
XM_011528811.1:c.65_68del XP_011527113.1:p.Val22AlafsTer19
XM_011528812.1:c.65_68del XP_011527114.1:p.Val22AlafsTer19
XM_011528813.1:c.65_68del XP_011527115.1:p.Val22AlafsTer19
XM_011528815.1:c.65_68del XP_011527117.1:p.Val22AlafsTer19
XM_011528816.1:c.65_68del XP_011527118.1:p.Val22AlafsTer19
NM_004518.5:c.65_68del NP_004509.2:p.Val22AlafsTer19
NM_172106.2:c.65_68del NP_742104.1:p.Val22AlafsTer19
NM_172107.3:c.65_68del NP_742105.1:p.Val22AlafsTer19
NM_172108.4:c.65_68del NP_742106.1:p.Val22AlafsTer19
NM_172109.2:c.65_68del NP_742107.1:p.Val22AlafsTer19
XM_011528810.2:c.65_68del XP_011527112.1:p.Val22AlafsTer19
XM_011528811.2:c.65_68del XP_011527113.1:p.Val22AlafsTer19
XM_017027841.2:c.65_68del XP_016883330.1:p.Val22AlafsTer19
XM_017027842.2:c.65_68del XP_016883331.1:p.Val22AlafsTer19
XM_017027844.2:c.65_68del XP_016883333.1:p.Val22AlafsTer19
NM_004518.6:c.65_68del NP_004509.2:p.Val22AlafsTer19
NM_172106.3:c.65_68del NP_742104.1:p.Val22AlafsTer19
NM_172107.4:c.65_68del MANE Select NP_742105.1:p.Val22AlafsTer19
NM_172108.5:c.65_68del NP_742106.1:p.Val22AlafsTer19
NM_172109.3:c.65_68del NP_742107.1:p.Val22AlafsTer19
NM_001382235.1:c.65_68del NP_001369164.1:p.Val22AlafsTer19
Search 100 bp 5'
Search 100 bp 3'