Canonical Allele Identifier: CA388638840

Gene: ZIC2

Linked Data

• MyVariant Identifiers: chr13:g.100637234C>A (hg19) ; chr13:g.99984980C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.99984980C>A , CM000675.2:g.99984980C>A	GRCh38
NC_000013.10:g.100637234C>A , CM000675.1:g.100637234C>A	GRCh37
NC_000013.9:g.99435235C>A	NCBI36
NG_007085.2:g.7916C>A
NG_007085.3:g.8225C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376335.8:c.1110C>A MANE Select	ENSP00000365514.3:p.Cys370Ter
ENST00000376335.7:c.1110C>A	ENSP00000365514.3:p.Cys370Ter
ENST00000468291.1:n.84C>A
ENST00000477213.1:n.192C>A
ENST00000490085.5:n.156C>A
ENST00000620342.1:c.1107C>A	ENSP00000481510.1:p.Cys369Ter
NM_007129.3:c.1110C>A	NP_009060.2:p.Cys370Ter
XM_011521110.1:c.1110C>A	XP_011519412.1:p.Cys370Ter
NM_007129.4:c.1110C>A	NP_009060.2:p.Cys370Ter
NM_007129.5:c.1110C>A MANE Select	NP_009060.2:p.Cys370Ter