ClinGen Allele Registry
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Canonical Allele Identifier:
CA337710132
Gene: GYG2P1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrY:g.12165822G>A
GRCh37
chrY:g.14286528G>A
Linked Data - Sequence & Population
gnomAD v3:
Y:12165822 G / A
gnomAD v4:
chrY-12165822-G-A
Joint Max Group AF
0.0112011 (MID)
Genomes Max Group AF
0.01075847 (SAS)
Linked Data - NCBI & NCI
dbSNP:
35248080
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.12165822G>A , CM000686.2:g.12165822G>A
GRCh38
NC_000024.9:g.14286528G>A , CM000686.1:g.14286528G>A
GRCh37
NC_000024.8:g.12796528G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000651802.1:n.712+37179C>T
Search 100 bp 5'
Search 100 bp 3'