Canonical Allele Identifier: CA337713991
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI

Linked Data

dbSNP Id: rs199865681
gnomAD v3: Y-12379881-T-C
gnomAD v4: Y-12379881-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12379881T>C , CM000686.2:g.12379881T>C GRCh38
NC_000024.9:g.14491684T>C , CM000686.1:g.14491684T>C GRCh37
NC_000024.8:g.13001692T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000382965.3:n.317-1132A>G (GYG2P1)
ENST00000689264.1:n.402-1132A>G (GYG2P1)
ENST00000443820.2:n.989+2059T>C (ARSDP1)
ENST00000651802.1:n.450+26503A>G (GYG2P1)
ENST00000651835.1:n.319+26915A>G (GYG2P1)
ENST00000382966.5:n.284-25110A>G (GYG2P1)
ENST00000443820.1:n.438-2455T>C (ARSDP1)
XR_001756061.1:n.609-1132A>G