ClinGen Allele Registry
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Canonical Allele Identifier:
CA337712885
Gene: GYG2P1
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chrY:g.12303320T>C
Linked Data - Sequence & Population
gnomAD v3:
Y:12303320 T / C
gnomAD v4:
chrY-12303320-T-C
Joint Max Group AF
0.95058018 (EAS)
Genomes Max Group AF
0.95058018 (EAS)
Linked Data - NCBI & NCI
dbSNP:
7892854
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.12303320T>C , CM000686.2:g.12303320T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000651802.1:n.451-61912A>G
ENST00000651835.1:n.320-45289A>G
Search 100 bp 5'
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