Canonical Allele Identifier: CA386710509

Gene: SH2B3 ATXN2

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111446804T>G , CM000674.2:g.111446804T>G	GRCh38
NC_000012.11:g.111884608T>G , CM000674.1:g.111884608T>G	GRCh37
NC_000012.10:g.110368991T>G	NCBI36
NG_021216.1:g.45857T>G , LRG_621:g.45857T>G
NG_011572.3:g.157873A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341259.7:c.784T>G (SH2B3) MANE Select	ENSP00000345492.2:p.Trp262Gly
ENST00000642389.2:c.*171-2617A>C (ATXN2)	ENSP00000496055.2:n.*171-2617A>C
ENST00000341259.6:c.784T>G (SH2B3)	ENSP00000345492.2:p.Trp262Gly
ENST00000538307.1:c.178T>G (SH2B3)	ENSP00000440597.1:p.Trp60Gly
NM_001291424.1:c.178T>G , LRG_621t2:c.178T>G (SH2B3)	NP_001278353.1:p.Trp60Gly
NM_005475.2:c.784T>G , LRG_621t1:c.784T>G (SH2B3)	NP_005466.1:p.Trp262Gly
XM_005253818.3:c.904T>G (SH2B3)	XP_005253875.1:p.Trp302Gly
XM_005253819.3:c.784T>G (SH2B3)	XP_005253876.1:p.Trp262Gly
XM_006719180.2:c.-18T>G (SH2B3)	XP_006719243.1:n.-18T>G
XM_011537719.1:c.904T>G (SH2B3)	XP_011536021.1:p.Trp302Gly
XM_011537720.1:c.904T>G (SH2B3)	XP_011536022.1:p.Trp302Gly
XM_011537721.1:c.178T>G (SH2B3)	XP_011536023.1:p.Trp60Gly
XM_011537722.1:c.1014T>G (SH2B3)	XP_011536024.1:p.Gly338=
XM_005253818.4:c.904T>G (SH2B3)	XP_005253875.1:p.Trp302Gly
XM_005253819.4:c.784T>G (SH2B3)	XP_005253876.1:p.Trp262Gly
XM_006719180.4:c.-18T>G (SH2B3)	XP_006719243.1:n.-18T>G
XM_011537719.2:c.904T>G (SH2B3)	XP_011536021.1:p.Trp302Gly
XM_011537720.3:c.904T>G (SH2B3)	XP_011536022.1:p.Trp302Gly
XM_011537721.3:c.178T>G (SH2B3)	XP_011536023.1:p.Trp60Gly
XM_024448790.1:c.*52T>G (SH2B3)	XP_024304558.1:n.*52T>G
XR_001748535.1:n.1508T>G (SH2B3)
XR_001748536.1:n.1414T>G (SH2B3)
XR_002957278.1:n.1384T>G (SH2B3)
NM_005475.3:c.784T>G (SH2B3) MANE Select	NP_005466.1:p.Trp262Gly