Canonical Allele Identifier: CA386720552

Gene: SH2B3

Linked Data

• dbSNP Id: rs1593038680
• gnomAD v4: 12-111418770-G-A
• MyVariant Identifiers: chr12:g.111856574G>A (hg19) ; chr12:g.111418770G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111418770G>A , CM000674.2:g.111418770G>A	GRCh38
NC_000012.11:g.111856574G>A , CM000674.1:g.111856574G>A	GRCh37
NC_000012.10:g.110340957G>A	NCBI36
NG_021216.1:g.17823G>A , LRG_621:g.17823G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000341259.7:c.625G>A MANE Select	ENSP00000345492.2:p.Ala209Thr
ENST00000341259.6:c.625G>A	ENSP00000345492.2:p.Ala209Thr
ENST00000550925.2:c.431G>A
NM_005475.2:c.625G>A , LRG_621t1:c.625G>A	NP_005466.1:p.Ala209Thr
XM_005253818.3:c.625G>A	XP_005253875.1:p.Ala209Thr
XM_005253819.3:c.625G>A	XP_005253876.1:p.Ala209Thr
XM_011537719.1:c.625G>A	XP_011536021.1:p.Ala209Thr
XM_011537720.1:c.625G>A	XP_011536022.1:p.Ala209Thr
XM_011537722.1:c.625G>A	XP_011536024.1:p.Ala209Thr
XM_005253818.4:c.625G>A	XP_005253875.1:p.Ala209Thr
XM_005253819.4:c.625G>A	XP_005253876.1:p.Ala209Thr
XM_011537719.2:c.625G>A	XP_011536021.1:p.Ala209Thr
XM_011537720.3:c.625G>A	XP_011536022.1:p.Ala209Thr
XM_024448790.1:c.625G>A	XP_024304558.1:p.Ala209Thr
XR_001748535.1:n.1026G>A
XR_001748536.1:n.1025G>A
XR_002957278.1:n.1022G>A
NM_005475.3:c.625G>A MANE Select	NP_005466.1:p.Ala209Thr