Canonical Allele Identifier: CA243602817

Gene: SH2B3

Linked Data

• dbSNP Id: rs1002118377
• gnomAD v2: 12-111856473-G-A
• gnomAD v3: 12-111418669-G-A
• gnomAD v4: 12-111418669-G-A
• COSMIC: COSM5499150
• MyVariant Identifiers: chr12:g.111856473G>A (hg19) ; chr12:g.111418669G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111418669G>A , CM000674.2:g.111418669G>A	GRCh38
NC_000012.11:g.111856473G>A , CM000674.1:g.111856473G>A	GRCh37
NC_000012.10:g.110340856G>A	NCBI36
NG_021216.1:g.17722G>A , LRG_621:g.17722G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341259.7:c.524G>A MANE Select	ENSP00000345492.2:p.Arg175Gln
ENST00000341259.6:c.524G>A	ENSP00000345492.2:p.Arg175Gln
ENST00000550925.2:c.330G>A
NM_005475.2:c.524G>A , LRG_621t1:c.524G>A	NP_005466.1:p.Arg175Gln
XM_005253818.3:c.524G>A	XP_005253875.1:p.Arg175Gln
XM_005253819.3:c.524G>A	XP_005253876.1:p.Arg175Gln
XM_011537719.1:c.524G>A	XP_011536021.1:p.Arg175Gln
XM_011537720.1:c.524G>A	XP_011536022.1:p.Arg175Gln
XM_011537722.1:c.524G>A	XP_011536024.1:p.Arg175Gln
XM_005253818.4:c.524G>A	XP_005253875.1:p.Arg175Gln
XM_005253819.4:c.524G>A	XP_005253876.1:p.Arg175Gln
XM_011537719.2:c.524G>A	XP_011536021.1:p.Arg175Gln
XM_011537720.3:c.524G>A	XP_011536022.1:p.Arg175Gln
XM_024448790.1:c.524G>A	XP_024304558.1:p.Arg175Gln
XR_001748535.1:n.925G>A
XR_001748536.1:n.924G>A
XR_002957278.1:n.921G>A
NM_005475.3:c.524G>A MANE Select	NP_005466.1:p.Arg175Gln