Canonical Allele Identifier: CA16609486
Gene: ZIC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 397654
ClinVar RCV Id: RCV000453235
dbSNP Id: rs1060499564
MyVariant Identifiers: chr13:g.100637221_100637222del (hg19) chr13:g.99984967_99984968del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.99984967_99984968del , CM000675.2:g.99984967_99984968del GRCh38
NC_000013.10:g.100637221_100637222del , CM000675.1:g.100637221_100637222del GRCh37
NC_000013.9:g.99435222_99435223del NCBI36
NG_007085.2:g.7903_7904del
NG_007085.3:g.8212_8213del

Transcript Alleles

HGVS Amino-acid change
ENST00000376335.8:c.1097_1098del MANE Select ENSP00000365514.3:p.Glu366ValfsTer2
ENST00000376335.7:c.1097_1098del ENSP00000365514.3:p.Glu366ValfsTer2
ENST00000468291.1:n.71_72del
ENST00000477213.1:n.179_180del
ENST00000490085.5:n.143_144del
ENST00000620342.1:c.1094_1095del ENSP00000481510.1:p.Glu365ValfsTer2
NM_007129.3:c.1097_1098del NP_009060.2:p.Glu366ValfsTer2
XM_011521110.1:c.1097_1098del XP_011519412.1:p.Glu366ValfsTer2
NM_007129.4:c.1097_1098del NP_009060.2:p.Glu366ValfsTer2
NM_007129.5:c.1097_1098del MANE Select NP_009060.2:p.Glu366ValfsTer2
Search 100 bp 5'
Search 100 bp 3'