Canonical Allele Identifier: CA2456206974
Gene: SH2D1A HGNC NCBI
STAG2 HGNC NCBI

Linked Data

dbSNP Id: rs2059992734

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.124346518_124346519insCC , CM000685.2:g.124346518_124346519insCC GRCh38
NC_000023.10:g.123480368_123480369insCC , CM000685.1:g.123480368_123480369insCC GRCh37
NC_000023.9:g.123308049_123308050insCC NCBI36
NG_007464.1:g.5219_5220insCC , LRG_106:g.5219_5220insCC
NG_033796.2:g.390959_390960insCC , LRG_782:g.390959_390960insCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000360027.5:c.-125_-124insCC (SH2D1A) ENSP00000353126.4:n.-125_-124insCC
ENST00000647259.2:c.-125_-124insCC (SH2D1A) ENSP00000494582.1:n.-125_-124insCC
ENST00000698112.1:n.499-19243_499-19242insCC (SH2D1A)
ENST00000698113.1:c.-125_-124insCC (SH2D1A) ENSP00000513571.1:n.-125_-124insCC
ENST00000698114.1:n.116+32_116+33insCC (SH2D1A)
ENST00000698115.1:n.72+32_72+33insCC (SH2D1A)
ENST00000698116.1:c.-59+32_-59+33insCC (SH2D1A) ENSP00000513572.1:n.-59+32_-59+33insCC
ENST00000647259.1:c.-125_-124insCC (SH2D1A) ENSP00000494582.1:n.-125_-124insCC
ENST00000371139.8:c.-125_-124insCC (SH2D1A) ENSP00000360181.4:n.-125_-124insCC
ENST00000469481.1:n.454-65304_454-65303insCC (STAG2)
ENST00000635645.1:n.499-19243_499-19242insCC (SH2D1A)
NM_001114937.2:c.-125_-124insCC (SH2D1A) NP_001108409.1:n.-125_-124insCC
NM_002351.4:c.-125_-124insCC , LRG_106t1:c.-125_-124insCC (SH2D1A) NP_002342.1:n.-125_-124insCC