Canonical Allele Identifier: CA2215849374
Community Standard Title: NC_000016.10:g.28862077G=
Gene: SH2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28862077G= , CM000678.2:g.28862077G= GRCh38
NC_000016.9:g.28873398G= , CM000678.1:g.28873398G= GRCh37
NC_000016.8:g.28780899G= NCBI36
NG_029706.2:g.20478G=

Transcript Alleles

HGVS Amino-acid Change
NM_001308293.1:c.-171+330G= NP_001295222.1:n.-171+330G=
NM_001308293.2:c.-171+330G= NP_001295222.1:n.-171+330G=
NM_001387404.1:c.-170-1591G= NP_001374333.1:n.-170-1591G=
ENST00000322610.12:c.-171+330G= ENSP00000321221.7:n.-171+330G=
ENST00000563591.5:c.-170-1591G= ENSP00000458097.1:n.-170-1591G=
ENST00000567536.5:c.-116+330G= ENSP00000455236.1:n.-116+330G=
XM_006721032.2:c.-170-1591G= XP_006721095.1:n.-170-1591G=
XM_006721033.2:c.-171+330G= XP_006721096.1:n.-171+330G=
XM_017023115.1:c.-170-1591G= XP_016878604.1:n.-170-1591G=