Canonical Allele Identifier: CA2215848631
Community Standard Title: NC_000016.10:g.28860645T=
Gene: SH2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28860645T= , CM000678.2:g.28860645T= GRCh38
NC_000016.9:g.28871966T= , CM000678.1:g.28871966T= GRCh37
NC_000016.8:g.28779467T= NCBI36
NG_029706.2:g.19046T=

Transcript Alleles

HGVS Amino-acid Change
NM_001308293.1:c.-300-973T= NP_001295222.1:n.-300-973T=
NM_001308293.2:c.-300-973T= NP_001295222.1:n.-300-973T=
NM_001387404.1:c.-170-3023T= NP_001374333.1:n.-170-3023T=
ENST00000322610.12:c.-300-973T= ENSP00000321221.7:n.-300-973T=
ENST00000563591.5:c.-170-3023T= ENSP00000458097.1:n.-170-3023T=
ENST00000567536.5:c.-245-973T= ENSP00000455236.1:n.-245-973T=
XM_006721032.2:c.-170-3023T= XP_006721095.1:n.-170-3023T=
XM_006721033.2:c.-300-973T= XP_006721096.1:n.-300-973T=
XM_017023115.1:c.-170-3023T= XP_016878604.1:n.-170-3023T=