Canonical Allele Identifier: CA2620933455

Gene: SH2B3

Linked Data

• gnomAD v4: 12-111418668-C-CGGCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111418678_111418682dup , CM000674.2:g.111418678_111418682dup	GRCh38
NC_000012.11:g.111856482_111856486dup , CM000674.1:g.111856482_111856486dup	GRCh37
NC_000012.10:g.110340865_110340869dup	NCBI36
NG_021216.1:g.17731_17735dup , LRG_621:g.17731_17735dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000341259.7:c.533_537dup MANE Select	ENSP00000345492.2:p.Lys180TrpfsTer19
ENST00000341259.6:c.533_537dup	ENSP00000345492.2:p.Lys180TrpfsTer19
ENST00000550925.2:c.339_343dup
NM_005475.2:c.533_537dup , LRG_621t1:c.533_537dup	NP_005466.1:p.Lys180TrpfsTer19
XM_005253818.3:c.533_537dup	XP_005253875.1:p.Lys180TrpfsTer19
XM_005253819.3:c.533_537dup	XP_005253876.1:p.Lys180TrpfsTer19
XM_011537719.1:c.533_537dup	XP_011536021.1:p.Lys180TrpfsTer19
XM_011537720.1:c.533_537dup	XP_011536022.1:p.Lys180TrpfsTer19
XM_011537722.1:c.533_537dup	XP_011536024.1:p.Lys180TrpfsTer19
XM_005253818.4:c.533_537dup	XP_005253875.1:p.Lys180TrpfsTer19
XM_005253819.4:c.533_537dup	XP_005253876.1:p.Lys180TrpfsTer19
XM_011537719.2:c.533_537dup	XP_011536021.1:p.Lys180TrpfsTer19
XM_011537720.3:c.533_537dup	XP_011536022.1:p.Lys180TrpfsTer19
XM_024448790.1:c.533_537dup	XP_024304558.1:p.Lys180TrpfsTer19
XR_001748535.1:n.934_938dup
XR_001748536.1:n.933_937dup
XR_002957278.1:n.930_934dup
NM_005475.3:c.533_537dup MANE Select	NP_005466.1:p.Lys180TrpfsTer19