Canonical Allele Identifier: CA1139217139

Gene: GYG2P1 ARSDP1

Linked Data

• dbSNP Id: rs2053260705
• gnomAD v3: Y-12384451-G-A
• gnomAD v4: Y-12384451-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.12384451G>A , CM000686.2:g.12384451G>A	GRCh38
NC_000024.9:g.14496254G>A , CM000686.1:g.14496254G>A	GRCh37
NC_000024.8:g.13006262G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382965.3:n.317-5702C>T (GYG2P1)
ENST00000689264.1:n.402-5702C>T (GYG2P1)
ENST00000443820.2:n.1408+21G>A (ARSDP1)
ENST00000651802.1:n.450+21933C>T (GYG2P1)
ENST00000651835.1:n.319+22345C>T (GYG2P1)
ENST00000382966.5:n.283+22345C>T (GYG2P1)
ENST00000443820.1:n.856+21G>A (ARSDP1)
ENST00000493160.5:n.803-1121C>T (GYG2P1)
XR_001756061.1:n.609-5702C>T