Canonical Allele Identifier: CA2620933189

Gene: SH2B3

Linked Data

• gnomAD v4: 12-111418606-TGCCAGCGGCCCACACCGCTGCCGCCCCCGGGACCCCCGGAGAGGCTGCTGAGACCCCCGCCCGGCCTGGCCTGGCCAAGAAGTTCCTGCCCTGGAGCCTGGCCCGGGAGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111418611_111418721del , CM000674.2:g.111418611_111418721del	GRCh38
NC_000012.11:g.111856415_111856525del , CM000674.1:g.111856415_111856525del	GRCh37
NC_000012.10:g.110340798_110340908del	NCBI36
NG_021216.1:g.17664_17774del , LRG_621:g.17664_17774del

Transcript Alleles

HGVS	Amino-acid change
ENST00000341259.7:c.466_576del MANE Select	ENSP00000345492.2:p.Ala156_Pro192del
ENST00000341259.6:c.466_576del	ENSP00000345492.2:p.Ala156_Pro192del
ENST00000550925.2:c.272_382del
NM_005475.2:c.466_576del , LRG_621t1:c.466_576del	NP_005466.1:p.Ala156_Pro192del
XM_005253818.3:c.466_576del	XP_005253875.1:p.Ala156_Pro192del
XM_005253819.3:c.466_576del	XP_005253876.1:p.Ala156_Pro192del
XM_011537719.1:c.466_576del	XP_011536021.1:p.Ala156_Pro192del
XM_011537720.1:c.466_576del	XP_011536022.1:p.Ala156_Pro192del
XM_011537722.1:c.466_576del	XP_011536024.1:p.Ala156_Pro192del
XM_005253818.4:c.466_576del	XP_005253875.1:p.Ala156_Pro192del
XM_005253819.4:c.466_576del	XP_005253876.1:p.Ala156_Pro192del
XM_011537719.2:c.466_576del	XP_011536021.1:p.Ala156_Pro192del
XM_011537720.3:c.466_576del	XP_011536022.1:p.Ala156_Pro192del
XM_024448790.1:c.466_576del	XP_024304558.1:p.Ala156_Pro192del
XR_001748535.1:n.867_977del
XR_001748536.1:n.866_976del
XR_002957278.1:n.863_973del
NM_005475.3:c.466_576del MANE Select	NP_005466.1:p.Ala156_Pro192del