Canonical Allele Identifier: CA2694635469

Gene: SH2D1A STAG2

Linked Data

• gnomAD v4: X-124346471-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346472del , CM000685.2:g.124346472del	GRCh38
NC_000023.10:g.123480322del , CM000685.1:g.123480322del	GRCh37
NC_000023.9:g.123308003del	NCBI36
NG_007464.1:g.5173del , LRG_106:g.5173del
NG_033796.2:g.390913del , LRG_782:g.390913del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360027.5:c.-171del (SH2D1A)	ENSP00000353126.4:n.-171del
ENST00000647259.2:c.-171del (SH2D1A)	ENSP00000494582.1:n.-171del
ENST00000698112.1:n.499-19289del (SH2D1A)
ENST00000698113.1:c.-171del (SH2D1A)	ENSP00000513571.1:n.-171del
ENST00000698114.1:n.102del (SH2D1A)
ENST00000698115.1:n.58del (SH2D1A)
ENST00000698116.1:c.-73del (SH2D1A)	ENSP00000513572.1:n.-73del
ENST00000647259.1:c.-171del (SH2D1A)	ENSP00000494582.1:n.-171del
ENST00000371139.8:c.-171del (SH2D1A)	ENSP00000360181.4:n.-171del
ENST00000469481.1:n.454-65350del (STAG2)
ENST00000635645.1:n.499-19289del (SH2D1A)
NM_001114937.2:c.-171del (SH2D1A)	NP_001108409.1:n.-171del
NM_002351.4:c.-171del , LRG_106t1:c.-171del (SH2D1A)	NP_002342.1:n.-171del