Canonical Allele Identifier: CA2797467925

Gene: SH2B3

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111418770_111418799del , CM000674.2:g.111418770_111418799del	GRCh38
NC_000012.11:g.111856574_111856603del , CM000674.1:g.111856574_111856603del	GRCh37
NC_000012.10:g.110340957_110340986del	NCBI36
NG_021216.1:g.17823_17852del , LRG_621:g.17823_17852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341259.7:c.625_654del MANE Select	ENSP00000345492.2:p.Ala209_Gln218del
ENST00000341259.6:c.625_654del	ENSP00000345492.2:p.Ala209_Gln218del
ENST00000550925.2:c.431_460del
NM_005475.2:c.625_654del , LRG_621t1:c.625_654del	NP_005466.1:p.Ala209_Gln218del
XM_005253818.3:c.625_654del	XP_005253875.1:p.Ala209_Gln218del
XM_005253819.3:c.625_654del	XP_005253876.1:p.Ala209_Gln218del
XM_011537719.1:c.625_654del	XP_011536021.1:p.Ala209_Gln218del
XM_011537720.1:c.625_654del	XP_011536022.1:p.Ala209_Gln218del
XM_011537722.1:c.625_654del	XP_011536024.1:p.Ala209_Gln218del
XM_005253818.4:c.625_654del	XP_005253875.1:p.Ala209_Gln218del
XM_005253819.4:c.625_654del	XP_005253876.1:p.Ala209_Gln218del
XM_011537719.2:c.625_654del	XP_011536021.1:p.Ala209_Gln218del
XM_011537720.3:c.625_654del	XP_011536022.1:p.Ala209_Gln218del
XM_024448790.1:c.625_654del	XP_024304558.1:p.Ala209_Gln218del
XR_001748535.1:n.1026_1055del
XR_001748536.1:n.1025_1054del
XR_002957278.1:n.1022_1051del
NM_005475.3:c.625_654del MANE Select	NP_005466.1:p.Ala209_Gln218del