Canonical Allele Identifier: CA481871259
Gene: SH2B3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.111856477T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.111418673T>G , CM000674.2:g.111418673T>G GRCh38
NC_000012.11:g.111856477T>G , CM000674.1:g.111856477T>G GRCh37
NC_000012.10:g.110340860T>G NCBI36
NG_021216.1:g.17726T>G , LRG_621:g.17726T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341259.7:c.528T>G MANE Select ENSP00000345492.2:p.Pro176=
ENST00000341259.6:c.528T>G ENSP00000345492.2:p.Pro176=
ENST00000550925.2:c.334T>G
NM_005475.2:c.528T>G , LRG_621t1:c.528T>G NP_005466.1:p.Pro176=
XM_005253818.3:c.528T>G XP_005253875.1:p.Pro176=
XM_005253819.3:c.528T>G XP_005253876.1:p.Pro176=
XM_011537719.1:c.528T>G XP_011536021.1:p.Pro176=
XM_011537720.1:c.528T>G XP_011536022.1:p.Pro176=
XM_011537722.1:c.528T>G XP_011536024.1:p.Pro176=
XM_005253818.4:c.528T>G XP_005253875.1:p.Pro176=
XM_005253819.4:c.528T>G XP_005253876.1:p.Pro176=
XM_011537719.2:c.528T>G XP_011536021.1:p.Pro176=
XM_011537720.3:c.528T>G XP_011536022.1:p.Pro176=
XM_024448790.1:c.528T>G XP_024304558.1:p.Pro176=
XR_001748535.1:n.929T>G
XR_001748536.1:n.928T>G
XR_002957278.1:n.925T>G
NM_005475.3:c.528T>G MANE Select NP_005466.1:p.Pro176=