Canonical Allele Identifier: CA2063311356
Gene: SH2B3 HGNC NCBI
ATXN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.111449855A>C , CM000674.2:g.111449855A>C GRCh38
NC_000012.11:g.111887659A>C , CM000674.1:g.111887659A>C GRCh37
NC_000012.10:g.110372042A>C NCBI36
NG_021216.1:g.48908A>C , LRG_621:g.48908A>C
NG_011572.3:g.154822T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341259.7:c.*1553A>C (SH2B3) MANE Select ENSP00000345492.2:n.*1553A>C
ENST00000642389.2:c.*170+1267T>G (ATXN2) ENSP00000496055.2:n.*170+1267T>G
ENST00000341259.6:c.*1553A>C (SH2B3) ENSP00000345492.2:n.*1553A>C
NM_001291424.1:c.*1553A>C , LRG_621t2:c.*1553A>C (SH2B3) NP_001278353.1:n.*1553A>C
NM_005475.2:c.*1553A>C , LRG_621t1:c.*1553A>C (SH2B3) NP_005466.1:n.*1553A>C
XM_005253818.3:c.*1553A>C (SH2B3) XP_005253875.1:n.*1553A>C
XM_005253819.3:c.*1553A>C (SH2B3) XP_005253876.1:n.*1553A>C
XM_006719180.2:c.*1553A>C (SH2B3) XP_006719243.1:n.*1553A>C
XM_011537719.1:c.*1553A>C (SH2B3) XP_011536021.1:n.*1553A>C
XM_011537720.1:c.*1553A>C (SH2B3) XP_011536022.1:n.*1553A>C
XM_011537721.1:c.*1553A>C (SH2B3) XP_011536023.1:n.*1553A>C
XM_005253818.4:c.*1553A>C (SH2B3) XP_005253875.1:n.*1553A>C
XM_005253819.4:c.*1553A>C (SH2B3) XP_005253876.1:n.*1553A>C
XM_006719180.4:c.*1553A>C (SH2B3) XP_006719243.1:n.*1553A>C
XM_011537719.2:c.*1553A>C (SH2B3) XP_011536021.1:n.*1553A>C
XM_011537720.3:c.*1553A>C (SH2B3) XP_011536022.1:n.*1553A>C
XM_011537721.3:c.*1553A>C (SH2B3) XP_011536023.1:n.*1553A>C
XR_001748535.1:n.4005A>C (SH2B3)
XR_001748536.1:n.3911A>C (SH2B3)
XR_002957278.1:n.3881A>C (SH2B3)
NM_005475.3:c.*1553A>C (SH2B3) MANE Select NP_005466.1:n.*1553A>C
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