Canonical Allele Identifier: CA13866595
Gene: ZIC2 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.99986138G>A
GRCh37 chr13:g.100638392G>A
gnomAD v2:
13:100638392 G / A
gnomAD v3:
13:99986138 G / A
gnomAD v4:
chr13-99986138-G-A
Joint Max Group AF 0.45734298 (AFR)
Genomes Max Group AF 0.45548124 (AFR)
Exomes Max Group AF 0.45712053 (AFR)
dbSNP:
13542
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.99986138G>A , CM000675.2:g.99986138G>A GRCh38
NC_000013.10:g.100638392G>A , CM000675.1:g.100638392G>A GRCh37
NC_000013.9:g.99436393G>A NCBI36
NG_007085.2:g.9074G>A
NG_007085.3:g.9383G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376335.8:c.*456G>A MANE Select ENSP00000365514.3:n.*456G>A
ENST00000376335.7:c.*456G>A ENSP00000365514.3:n.*456G>A
NM_007129.3:c.*456G>A NP_009060.2:n.*456G>A
NM_007129.4:c.*456G>A NP_009060.2:n.*456G>A
NM_007129.5:c.*456G>A MANE Select NP_009060.2:n.*456G>A
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