Linked Data
ClinVar Variation Id:
619973
dbSNP Id:
rs148636776
ExAC:
12:111885295 G / A
gnomAD v2:
12-111885295-G-A
gnomAD v3:
12-111447491-G-A
gnomAD v4:
12-111447491-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111447491G>A , CM000674.2:g.111447491G>A | GRCh38 |
| NC_000012.11:g.111885295G>A , CM000674.1:g.111885295G>A | GRCh37 |
| NC_000012.10:g.110369678G>A | NCBI36 |
| NG_021216.1:g.46544G>A , LRG_621:g.46544G>A | |
| NG_011572.3:g.157186C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341259.7:c.1183G>A (SH2B3) MANE Select | ENSP00000345492.2:p.Glu395Lys | |
| ENST00000642389.2:c.*171-3304C>T (ATXN2) | ENSP00000496055.2:n.*171-3304C>T | |
| ENST00000341259.6:c.1183G>A (SH2B3) | ENSP00000345492.2:p.Glu395Lys | |
| ENST00000538307.1:c.577G>A (SH2B3) | ENSP00000440597.1:p.Glu193Lys | |
| NM_001291424.1:c.577G>A , LRG_621t2:c.577G>A (SH2B3) | NP_001278353.1:p.Glu193Lys | |
| NM_005475.2:c.1183G>A , LRG_621t1:c.1183G>A (SH2B3) | NP_005466.1:p.Glu395Lys | |
| XM_005253818.3:c.1303G>A (SH2B3) | XP_005253875.1:p.Glu435Lys | |
| XM_005253819.3:c.1186G>A (SH2B3) | XP_005253876.1:p.Glu396Lys | |
| XM_006719180.2:c.385G>A (SH2B3) | XP_006719243.1:p.Glu129Lys | |
| XM_011537719.1:c.1306G>A (SH2B3) | XP_011536021.1:p.Glu436Lys | |
| XM_011537720.1:c.1306G>A (SH2B3) | XP_011536022.1:p.Glu436Lys | |
| XM_011537721.1:c.580G>A (SH2B3) | XP_011536023.1:p.Glu194Lys | |
| XM_005253818.4:c.1303G>A (SH2B3) | XP_005253875.1:p.Glu435Lys | |
| XM_005253819.4:c.1186G>A (SH2B3) | XP_005253876.1:p.Glu396Lys | |
| XM_006719180.4:c.385G>A (SH2B3) | XP_006719243.1:p.Glu129Lys | |
| XM_011537719.2:c.1306G>A (SH2B3) | XP_011536021.1:p.Glu436Lys | |
| XM_011537720.3:c.1306G>A (SH2B3) | XP_011536022.1:p.Glu436Lys | |
| XM_011537721.3:c.580G>A (SH2B3) | XP_011536023.1:p.Glu194Lys | |
| XR_001748535.1:n.1907G>A (SH2B3) | ||
| XR_001748536.1:n.1813G>A (SH2B3) | ||
| XR_002957278.1:n.1783G>A (SH2B3) | ||
| NM_005475.3:c.1183G>A (SH2B3) MANE Select | NP_005466.1:p.Glu395Lys |