Canonical Allele Identifier: CA14281165

Gene: SH2B1

Genomic Alleles

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

Transcript Alleles

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