Canonical Allele Identifier: CA2470535982

Gene: GYG2P1 ARSDP1

Linked Data

• dbSNP Id: rs2053260979

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.12384653A>G , CM000686.2:g.12384653A>G	GRCh38
NC_000024.9:g.14496448A>G , CM000686.1:g.14496448A>G	GRCh37
NC_000024.8:g.13006456A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382965.3:n.317-5904T>C (GYG2P1)
ENST00000689264.1:n.402-5904T>C (GYG2P1)
ENST00000443820.2:n.1408+223A>G (ARSDP1)
ENST00000651802.1:n.450+21731T>C (GYG2P1)
ENST00000651835.1:n.319+22143T>C (GYG2P1)
ENST00000382966.5:n.283+22143T>C (GYG2P1)
ENST00000443820.1:n.856+223A>G (ARSDP1)
ENST00000493160.5:n.803-1323T>C (GYG2P1)
XR_001756061.1:n.609-5904T>C