Canonical Allele Identifier: CA7032832

Gene: ZIC2

Linked Data

• ClinVar Variation Id: 381533
• ClinVar RCV Id: RCV000436365 ; RCV002519525
• dbSNP Id: rs766439036
• ExAC: 13:100634945 A / G
• gnomAD v2: 13-100634945-A-G
• gnomAD v3: 13-99982691-A-G
• gnomAD v4: 13-99982691-A-G
• MyVariant Identifiers: chr13:g.100634945A>G (hg19) ; chr13:g.99982691A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.99982691A>G , CM000675.2:g.99982691A>G	GRCh38
NC_000013.10:g.100634945A>G , CM000675.1:g.100634945A>G	GRCh37
NC_000013.9:g.99432946A>G	NCBI36
NG_007085.2:g.5627A>G
NG_007085.3:g.5936A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376335.8:c.627A>G MANE Select	ENSP00000365514.3:p.Gln209=
ENST00000376335.7:c.627A>G	ENSP00000365514.3:p.Gln209=
ENST00000620342.1:c.624A>G	ENSP00000481510.1:p.Gln208=
NM_007129.3:c.627A>G	NP_009060.2:p.Gln209=
XM_011521110.1:c.627A>G	XP_011519412.1:p.Gln209=
NM_007129.4:c.627A>G	NP_009060.2:p.Gln209=
NM_007129.5:c.627A>G MANE Select	NP_009060.2:p.Gln209=