Canonical Allele Identifier: CA2521406585
Gene: SH2D1A HGNC NCBI
STAG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.124346386_124346387insGA , CM000685.2:g.124346386_124346387insGA GRCh38
NC_000023.10:g.123480236_123480237insGA , CM000685.1:g.123480236_123480237insGA GRCh37
NC_000023.9:g.123307917_123307918insGA NCBI36
NG_007464.1:g.5087_5088insGA , LRG_106:g.5087_5088insGA
NG_033796.2:g.390827_390828insGA , LRG_782:g.390827_390828insGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000698112.1:n.499-19375_499-19374insGA (SH2D1A)
ENST00000698113.1:c.-257_-256insGA (SH2D1A) ENSP00000513571.1:n.-257_-256insGA
ENST00000698114.1:n.16_17insGA (SH2D1A)
ENST00000371139.8:c.-257_-256insGA (SH2D1A) ENSP00000360181.4:n.-257_-256insGA
ENST00000469481.1:n.454-65436_454-65435insGA (STAG2)
ENST00000635645.1:n.499-19375_499-19374insGA (SH2D1A)
NM_001114937.2:c.-257_-256insGA (SH2D1A) NP_001108409.1:n.-257_-256insGA
NM_002351.4:c.-257_-256insGA , LRG_106t1:c.-257_-256insGA (SH2D1A) NP_002342.1:n.-257_-256insGA