ClinGen Allele Registry
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Canonical Allele Identifier:
CA337708496
Gene: GYG2P1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrY:g.12110586A>G
GRCh37
chrY:g.14231292A>G
Linked Data - Sequence & Population
gnomAD v3:
Y:12110586 A / G
gnomAD v4:
chrY-12110586-A-G
Joint Max Group AF
0.97890356 (AFR)
Genomes Max Group AF
0.97890356 (AFR)
Linked Data - NCBI & NCI
dbSNP:
7067305
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.12110586A>G , CM000686.2:g.12110586A>G
GRCh38
NC_000024.9:g.14231292A>G , CM000686.1:g.14231292A>G
GRCh37
NC_000024.8:g.12741292A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000651802.1:n.927+260T>C
Search 100 bp 5'
Search 100 bp 3'