Canonical Allele Identifier: CA10587175
Gene: ZIC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 260132
ClinVar RCV Id: RCV000247149 RCV003105840
dbSNP Id: rs886038582
gnomAD v2: 13-100634600-G-C
gnomAD v3: 13-99982346-G-C
gnomAD v4: 13-99982346-G-C
MyVariant Identifiers: chr13:g.100634600G>C (hg19) chr13:g.99982346G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.99982346G>C , CM000675.2:g.99982346G>C GRCh38
NC_000013.10:g.100634600G>C , CM000675.1:g.100634600G>C GRCh37
NC_000013.9:g.99432601G>C NCBI36
NG_007085.2:g.5282G>C
NG_007085.3:g.5591G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376335.8:c.282G>C MANE Select ENSP00000365514.3:p.Ala94=
ENST00000376335.7:c.282G>C ENSP00000365514.3:p.Ala94=
ENST00000620342.1:c.282G>C ENSP00000481510.1:p.Ala94=
NM_007129.3:c.282G>C NP_009060.2:p.Ala94=
XM_011521110.1:c.282G>C XP_011519412.1:p.Ala94=
NM_007129.4:c.282G>C NP_009060.2:p.Ala94=
NM_007129.5:c.282G>C MANE Select NP_009060.2:p.Ala94=
Search 100 bp 5'
Search 100 bp 3'