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Canonical Allele Identifier:
CA337712965
Gene: GYG2P1
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chrY:g.12312201G>A
Linked Data - Sequence & Population
gnomAD v3:
Y:12312201 G / A
gnomAD v4:
chrY-12312201-G-A
Joint Max Group AF
0.1083031 (MID)
Genomes Max Group AF
0.04483721 (AMR)
Linked Data - NCBI & NCI
dbSNP:
2740980
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.12312201G>A , CM000686.2:g.12312201G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000651802.1:n.451-70793C>T
ENST00000651835.1:n.320-54170C>T
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