Canonical Allele Identifier: CA2797467923

Gene: SH2B3

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111418668del , CM000674.2:g.111418668del	GRCh38
NC_000012.11:g.111856472del , CM000674.1:g.111856472del	GRCh37
NC_000012.10:g.110340855del	NCBI36
NG_021216.1:g.17721del , LRG_621:g.17721del

Transcript Alleles

HGVS	Amino-acid change
ENST00000341259.7:c.523del MANE Select	ENSP00000345492.2:p.Arg175GlyfsTer22
ENST00000341259.6:c.523del	ENSP00000345492.2:p.Arg175GlyfsTer22
ENST00000550925.2:c.329del
NM_005475.2:c.523del , LRG_621t1:c.523del	NP_005466.1:p.Arg175GlyfsTer22
XM_005253818.3:c.523del	XP_005253875.1:p.Arg175GlyfsTer22
XM_005253819.3:c.523del	XP_005253876.1:p.Arg175GlyfsTer22
XM_011537719.1:c.523del	XP_011536021.1:p.Arg175GlyfsTer22
XM_011537720.1:c.523del	XP_011536022.1:p.Arg175GlyfsTer22
XM_011537722.1:c.523del	XP_011536024.1:p.Arg175GlyfsTer22
XM_005253818.4:c.523del	XP_005253875.1:p.Arg175GlyfsTer22
XM_005253819.4:c.523del	XP_005253876.1:p.Arg175GlyfsTer22
XM_011537719.2:c.523del	XP_011536021.1:p.Arg175GlyfsTer22
XM_011537720.3:c.523del	XP_011536022.1:p.Arg175GlyfsTer22
XM_024448790.1:c.523del	XP_024304558.1:p.Arg175GlyfsTer22
XR_001748535.1:n.924del
XR_001748536.1:n.923del
XR_002957278.1:n.920del
NM_005475.3:c.523del MANE Select	NP_005466.1:p.Arg175GlyfsTer22