Canonical Allele Identifier: CA1139257479

Gene: GYG2P1 ARSDP1

Linked Data

• gnomAD v3: Y-12383399-A-T
• gnomAD v4: Y-12383399-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.12383399A>T , CM000686.2:g.12383399A>T	GRCh38
NC_000024.9:g.14495202A>T , CM000686.1:g.14495202A>T	GRCh37
NC_000024.8:g.13005210A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000382965.3:n.317-4650T>A (GYG2P1)
ENST00000689264.1:n.402-4650T>A (GYG2P1)
ENST00000443820.2:n.1286+96A>T (ARSDP1)
ENST00000651802.1:n.450+22985T>A (GYG2P1)
ENST00000651835.1:n.319+23397T>A (GYG2P1)
ENST00000382966.5:n.283+23397T>A (GYG2P1)
ENST00000443820.1:n.734+96A>T (ARSDP1)
ENST00000493160.5:n.803-69T>A (GYG2P1)
XR_001756061.1:n.609-4650T>A