ClinGen Allele Registry
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Canonical Allele Identifier:
CA337710388
Gene: GYG2P1
HGNC
NCBI
Linked Data
dbSNP Id:
rs112361287
gnomAD v3:
Y-12173838-G-A
gnomAD v4:
Y-12173838-G-A
COSMIC:
COSN17022451
MyVariant Identifiers:
chrY:g.14294544G>A (hg19)
chrY:g.12173838G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.12173838G>A , CM000686.2:g.12173838G>A
GRCh38
NC_000024.9:g.14294544G>A , CM000686.1:g.14294544G>A
GRCh37
NC_000024.8:g.12804544G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000651802.1:n.712+29163C>T
Search 100 bp 5'
Search 100 bp 3'