Canonical Allele Identifier: CA2456206971
Gene: SH2D1A HGNC NCBI
STAG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.124346510_124346511delinsTG , CM000685.2:g.124346510_124346511delinsTG GRCh38
NC_000023.10:g.123480360_123480361delinsTG , CM000685.1:g.123480360_123480361delinsTG GRCh37
NC_000023.9:g.123308041_123308042delinsTG NCBI36
NG_007464.1:g.5211_5212delinsTG , LRG_106:g.5211_5212delinsTG
NG_033796.2:g.390951_390952delinsTG , LRG_782:g.390951_390952delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000360027.5:c.-133_-132delinsTG (SH2D1A) ENSP00000353126.4:n.-133_-132delinsTG
ENST00000647259.2:c.-133_-132delinsTG (SH2D1A) ENSP00000494582.1:n.-133_-132delinsTG
ENST00000698112.1:n.499-19251_499-19250delinsTG (SH2D1A)
ENST00000698113.1:c.-133_-132delinsTG (SH2D1A) ENSP00000513571.1:n.-133_-132delinsTG
ENST00000698114.1:n.116+24_116+25delinsTG (SH2D1A)
ENST00000698115.1:n.72+24_72+25delinsTG (SH2D1A)
ENST00000698116.1:c.-59+24_-59+25delinsTG (SH2D1A) ENSP00000513572.1:n.-59+24_-59+25delinsTG
ENST00000647259.1:c.-133_-132delinsTG (SH2D1A) ENSP00000494582.1:n.-133_-132delinsTG
ENST00000371139.8:c.-133_-132delinsTG (SH2D1A) ENSP00000360181.4:n.-133_-132delinsTG
ENST00000469481.1:n.454-65312_454-65311delinsTG (STAG2)
ENST00000635645.1:n.499-19251_499-19250delinsTG (SH2D1A)
NM_001114937.2:c.-133_-132delinsTG (SH2D1A) NP_001108409.1:n.-133_-132delinsTG
NM_002351.4:c.-133_-132delinsTG , LRG_106t1:c.-133_-132delinsTG (SH2D1A) NP_002342.1:n.-133_-132delinsTG