Canonical Allele Identifier: CA2580087795

Gene: ZIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.99985083_99985086delinsGCATGT , CM000675.2:g.99985083_99985086delinsGCATGT	GRCh38
NC_000013.10:g.100637337_100637340delinsGCATGT , CM000675.1:g.100637337_100637340delinsGCATGT	GRCh37
NC_000013.9:g.99435338_99435341delinsGCATGT	NCBI36
NG_007085.2:g.8019_8022delinsGCATGT
NG_007085.3:g.8328_8331delinsGCATGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376335.8:c.1213_1216delinsGCATGT MANE Select	ENSP00000365514.3:p.Pro405AlafsTer9
ENST00000376335.7:c.1213_1216delinsGCATGT	ENSP00000365514.3:p.Pro405AlafsTer9
ENST00000468291.1:n.187_190delinsGCATGT
ENST00000477213.1:n.295_298delinsGCATGT
ENST00000490085.5:n.259_262delinsGCATGT
ENST00000620342.1:c.1210_1213delinsGCATGT	ENSP00000481510.1:p.Pro404AlafsTer9
NM_007129.3:c.1213_1216delinsGCATGT	NP_009060.2:p.Pro405AlafsTer9
XM_011521110.1:c.1213_1216delinsGCATGT	XP_011519412.1:p.Pro405AlafsTer9
NM_007129.4:c.1213_1216delinsGCATGT	NP_009060.2:p.Pro405AlafsTer9
NM_007129.5:c.1213_1216delinsGCATGT MANE Select	NP_009060.2:p.Pro405AlafsTer9