Canonical Allele Identifier: CA2797467922
Gene: SH2B3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.111418628_111418668dup , CM000674.2:g.111418628_111418668dup GRCh38
NC_000012.11:g.111856432_111856472dup , CM000674.1:g.111856432_111856472dup GRCh37
NC_000012.10:g.110340815_110340855dup NCBI36
NG_021216.1:g.17681_17721dup , LRG_621:g.17681_17721dup

Transcript Alleles

HGVS Amino-acid change
ENST00000341259.7:c.483_523dup MANE Select ENSP00000345492.2:p.Arg175ProfsTer36
ENST00000341259.6:c.483_523dup ENSP00000345492.2:p.Arg175ProfsTer36
ENST00000550925.2:c.289_329dup
NM_005475.2:c.483_523dup , LRG_621t1:c.483_523dup NP_005466.1:p.Arg175ProfsTer36
XM_005253818.3:c.483_523dup XP_005253875.1:p.Arg175ProfsTer36
XM_005253819.3:c.483_523dup XP_005253876.1:p.Arg175ProfsTer36
XM_011537719.1:c.483_523dup XP_011536021.1:p.Arg175ProfsTer36
XM_011537720.1:c.483_523dup XP_011536022.1:p.Arg175ProfsTer36
XM_011537722.1:c.483_523dup XP_011536024.1:p.Arg175ProfsTer36
XM_005253818.4:c.483_523dup XP_005253875.1:p.Arg175ProfsTer36
XM_005253819.4:c.483_523dup XP_005253876.1:p.Arg175ProfsTer36
XM_011537719.2:c.483_523dup XP_011536021.1:p.Arg175ProfsTer36
XM_011537720.3:c.483_523dup XP_011536022.1:p.Arg175ProfsTer36
XM_024448790.1:c.483_523dup XP_024304558.1:p.Arg175ProfsTer36
XR_001748535.1:n.884_924dup
XR_001748536.1:n.883_923dup
XR_002957278.1:n.880_920dup
NM_005475.3:c.483_523dup MANE Select NP_005466.1:p.Arg175ProfsTer36