Canonical Allele Identifier: CA6789690

Gene: SH2B3

Linked Data

• ClinVar Variation Id: 2322874
• ClinVar RCV Id: RCV002920343
• dbSNP Id: rs778186029
• ExAC: 12:111856580 A / G
• gnomAD v2: 12-111856580-A-G
• gnomAD v3: 12-111418776-A-G
• gnomAD v4: 12-111418776-A-G
• MyVariant Identifiers: chr12:g.111856580A>G (hg19) ; chr12:g.111418776A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111418776A>G , CM000674.2:g.111418776A>G	GRCh38
NC_000012.11:g.111856580A>G , CM000674.1:g.111856580A>G	GRCh37
NC_000012.10:g.110340963A>G	NCBI36
NG_021216.1:g.17829A>G , LRG_621:g.17829A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341259.7:c.631A>G MANE Select	ENSP00000345492.2:p.Met211Val
ENST00000341259.6:c.631A>G	ENSP00000345492.2:p.Met211Val
ENST00000550925.2:c.437A>G
NM_005475.2:c.631A>G , LRG_621t1:c.631A>G	NP_005466.1:p.Met211Val
XM_005253818.3:c.631A>G	XP_005253875.1:p.Met211Val
XM_005253819.3:c.631A>G	XP_005253876.1:p.Met211Val
XM_011537719.1:c.631A>G	XP_011536021.1:p.Met211Val
XM_011537720.1:c.631A>G	XP_011536022.1:p.Met211Val
XM_011537722.1:c.631A>G	XP_011536024.1:p.Met211Val
XM_005253818.4:c.631A>G	XP_005253875.1:p.Met211Val
XM_005253819.4:c.631A>G	XP_005253876.1:p.Met211Val
XM_011537719.2:c.631A>G	XP_011536021.1:p.Met211Val
XM_011537720.3:c.631A>G	XP_011536022.1:p.Met211Val
XM_024448790.1:c.631A>G	XP_024304558.1:p.Met211Val
XR_001748535.1:n.1032A>G
XR_001748536.1:n.1031A>G
XR_002957278.1:n.1028A>G
NM_005475.3:c.631A>G MANE Select	NP_005466.1:p.Met211Val