ClinGen Allele Registry
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Canonical Allele Identifier:
CA337708158
Gene: GYG2P1
HGNC
NCBI
Linked Data
dbSNP Id:
rs112119188
gnomAD v3:
Y-12088872-C-T
gnomAD v4:
Y-12088872-C-T
MyVariant Identifiers:
chrY:g.14209578C>T (hg19)
chrY:g.12088872C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.12088872C>T , CM000686.2:g.12088872C>T
GRCh38
NC_000024.9:g.14209578C>T , CM000686.1:g.14209578C>T
GRCh37
NC_000024.8:g.12719578C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000651802.1:n.1341G>A
Search 100 bp 5'
Search 100 bp 3'