Canonical Allele Identifier: CA16609488
Gene: ZIC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 397656
ClinVar RCV Id: RCV000452804
dbSNP Id: rs1060499562
MyVariant Identifiers: chr13:g.100637219_100637220del (hg19) chr13:g.99984965_99984966del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.99984965_99984966del , CM000675.2:g.99984965_99984966del GRCh38
NC_000013.10:g.100637219_100637220del , CM000675.1:g.100637219_100637220del GRCh37
NC_000013.9:g.99435220_99435221del NCBI36
NG_007085.2:g.7901_7902del
NG_007085.3:g.8210_8211del

Transcript Alleles

HGVS Amino-acid change
ENST00000376335.8:c.1095_1096del MANE Select ENSP00000365514.3:p.Cys365Ter
ENST00000376335.7:c.1095_1096del ENSP00000365514.3:p.Cys365Ter
ENST00000468291.1:n.69_70del
ENST00000477213.1:n.177_178del
ENST00000490085.5:n.141_142del
ENST00000620342.1:c.1092_1093del ENSP00000481510.1:p.Cys364Ter
NM_007129.3:c.1095_1096del NP_009060.2:p.Cys365Ter
XM_011521110.1:c.1095_1096del XP_011519412.1:p.Cys365Ter
NM_007129.4:c.1095_1096del NP_009060.2:p.Cys365Ter
NM_007129.5:c.1095_1096del MANE Select NP_009060.2:p.Cys365Ter
Search 100 bp 5'
Search 100 bp 3'