Canonical Allele Identifier: CA16609488

Gene: ZIC2

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)

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