Canonical Allele Identifier: CA645286563

Gene: GYG2P1 ARSDP1

Linked Data

• dbSNP Id: rs1217497192
• gnomAD v2: Y-14491595-A-G
• MyVariant Identifiers: chrY:g.14491595A>G (hg19) ; chrY:g.12379792A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.12379792A>G , CM000686.2:g.12379792A>G	GRCh38
NC_000024.9:g.14491595A>G , CM000686.1:g.14491595A>G	GRCh37
NC_000024.8:g.13001603A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000382965.3:n.317-1043T>C (GYG2P1)
ENST00000689264.1:n.402-1043T>C (GYG2P1)
ENST00000443820.2:n.989+1970A>G (ARSDP1)
ENST00000651802.1:n.450+26592T>C (GYG2P1)
ENST00000651835.1:n.319+27004T>C (GYG2P1)
ENST00000382966.5:n.284-25021T>C (GYG2P1)
ENST00000443820.1:n.438-2544A>G (ARSDP1)
XR_001756061.1:n.609-1043T>C