Linked Data
dbSNP Id:
rs739496
gnomAD v2:
12-111887659-A-G
gnomAD v3:
12-111449855-A-G
gnomAD v4:
12-111449855-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111449855A>G , CM000674.2:g.111449855A>G | GRCh38 |
| NC_000012.11:g.111887659A>G , CM000674.1:g.111887659A>G | GRCh37 |
| NC_000012.10:g.110372042A>G | NCBI36 |
| NG_021216.1:g.48908A>G , LRG_621:g.48908A>G | |
| NG_011572.3:g.154822T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341259.7:c.*1553A>G (SH2B3) MANE Select | ENSP00000345492.2:n.*1553A>G | |
| ENST00000642389.2:c.*170+1267T>C (ATXN2) | ENSP00000496055.2:n.*170+1267T>C | |
| ENST00000341259.6:c.*1553A>G (SH2B3) | ENSP00000345492.2:n.*1553A>G | |
| NM_001291424.1:c.*1553A>G , LRG_621t2:c.*1553A>G (SH2B3) | NP_001278353.1:n.*1553A>G | |
| NM_005475.2:c.*1553A>G , LRG_621t1:c.*1553A>G (SH2B3) | NP_005466.1:n.*1553A>G | |
| XM_005253818.3:c.*1553A>G (SH2B3) | XP_005253875.1:n.*1553A>G | |
| XM_005253819.3:c.*1553A>G (SH2B3) | XP_005253876.1:n.*1553A>G | |
| XM_006719180.2:c.*1553A>G (SH2B3) | XP_006719243.1:n.*1553A>G | |
| XM_011537719.1:c.*1553A>G (SH2B3) | XP_011536021.1:n.*1553A>G | |
| XM_011537720.1:c.*1553A>G (SH2B3) | XP_011536022.1:n.*1553A>G | |
| XM_011537721.1:c.*1553A>G (SH2B3) | XP_011536023.1:n.*1553A>G | |
| XM_005253818.4:c.*1553A>G (SH2B3) | XP_005253875.1:n.*1553A>G | |
| XM_005253819.4:c.*1553A>G (SH2B3) | XP_005253876.1:n.*1553A>G | |
| XM_006719180.4:c.*1553A>G (SH2B3) | XP_006719243.1:n.*1553A>G | |
| XM_011537719.2:c.*1553A>G (SH2B3) | XP_011536021.1:n.*1553A>G | |
| XM_011537720.3:c.*1553A>G (SH2B3) | XP_011536022.1:n.*1553A>G | |
| XM_011537721.3:c.*1553A>G (SH2B3) | XP_011536023.1:n.*1553A>G | |
| XR_001748535.1:n.4005A>G (SH2B3) | ||
| XR_001748536.1:n.3911A>G (SH2B3) | ||
| XR_002957278.1:n.3881A>G (SH2B3) | ||
| NM_005475.3:c.*1553A>G (SH2B3) MANE Select | NP_005466.1:n.*1553A>G |