Canonical Allele Identifier: CA386719993

Gene: SH2B3

Linked Data

• dbSNP Id: rs1593038411
• gnomAD v4: 12-111418674-G-A
• MyVariant Identifiers: chr12:g.111856478G>A (hg19) ; chr12:g.111418674G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111418674G>A , CM000674.2:g.111418674G>A	GRCh38
NC_000012.11:g.111856478G>A , CM000674.1:g.111856478G>A	GRCh37
NC_000012.10:g.110340861G>A	NCBI36
NG_021216.1:g.17727G>A , LRG_621:g.17727G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341259.7:c.529G>A MANE Select	ENSP00000345492.2:p.Gly177Ser
ENST00000341259.6:c.529G>A	ENSP00000345492.2:p.Gly177Ser
ENST00000550925.2:c.335G>A
NM_005475.2:c.529G>A , LRG_621t1:c.529G>A	NP_005466.1:p.Gly177Ser
XM_005253818.3:c.529G>A	XP_005253875.1:p.Gly177Ser
XM_005253819.3:c.529G>A	XP_005253876.1:p.Gly177Ser
XM_011537719.1:c.529G>A	XP_011536021.1:p.Gly177Ser
XM_011537720.1:c.529G>A	XP_011536022.1:p.Gly177Ser
XM_011537722.1:c.529G>A	XP_011536024.1:p.Gly177Ser
XM_005253818.4:c.529G>A	XP_005253875.1:p.Gly177Ser
XM_005253819.4:c.529G>A	XP_005253876.1:p.Gly177Ser
XM_011537719.2:c.529G>A	XP_011536021.1:p.Gly177Ser
XM_011537720.3:c.529G>A	XP_011536022.1:p.Gly177Ser
XM_024448790.1:c.529G>A	XP_024304558.1:p.Gly177Ser
XR_001748535.1:n.930G>A
XR_001748536.1:n.929G>A
XR_002957278.1:n.926G>A
NM_005475.3:c.529G>A MANE Select	NP_005466.1:p.Gly177Ser