ClinGen Allele Registry
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Canonical Allele Identifier:
CA337712968
Gene: GYG2P1
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chrY:g.12312373A>G
Linked Data - Sequence & Population
gnomAD v3:
Y:12312373 A / G
gnomAD v4:
chrY-12312373-A-G
Joint Max Group AF
0.93428538 (EAS)
Genomes Max Group AF
0.93428538 (EAS)
Linked Data - NCBI & NCI
dbSNP:
2740981
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.12312373A>G , CM000686.2:g.12312373A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000651802.1:n.451-70965T>C
ENST00000651835.1:n.320-54342T>C
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