Canonical Allele Identifier: CA386711423

Gene: SH2B3 ATXN2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111447491G>T , CM000674.2:g.111447491G>T	GRCh38
NC_000012.11:g.111885295G>T , CM000674.1:g.111885295G>T	GRCh37
NC_000012.10:g.110369678G>T	NCBI36
NG_021216.1:g.46544G>T , LRG_621:g.46544G>T
NG_011572.3:g.157186C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005475.3:c.1183G>T (SH2B3) MANE Select	NP_005466.1:p.Glu395Ter
ENST00000341259.7:c.1183G>T (SH2B3) MANE Select	ENSP00000345492.2:p.Glu395Ter
NM_001291424.1:c.577G>T , LRG_621t2:c.577G>T (SH2B3)	NP_001278353.1:p.Glu193Ter
NM_005475.2:c.1183G>T , LRG_621t1:c.1183G>T (SH2B3)	NP_005466.1:p.Glu395Ter
ENST00000341259.6:c.1183G>T (SH2B3)	ENSP00000345492.2:p.Glu395Ter
ENST00000538307.1:c.577G>T (SH2B3)	ENSP00000440597.1:p.Glu193Ter
ENST00000642389.2:c.*171-3304C>A (ATXN2)	ENSP00000496055.2:n.*171-3304C>A
XM_005253818.3:c.1303G>T (SH2B3)	XP_005253875.1:p.Glu435Ter
XM_005253818.4:c.1303G>T (SH2B3)	XP_005253875.1:p.Glu435Ter
XM_005253819.3:c.1186G>T (SH2B3)	XP_005253876.1:p.Glu396Ter
XM_005253819.4:c.1186G>T (SH2B3)	XP_005253876.1:p.Glu396Ter
XM_006719180.2:c.385G>T (SH2B3)	XP_006719243.1:p.Glu129Ter
XM_006719180.4:c.385G>T (SH2B3)	XP_006719243.1:p.Glu129Ter
XM_011537719.1:c.1306G>T (SH2B3)	XP_011536021.1:p.Glu436Ter
XM_011537719.2:c.1306G>T (SH2B3)	XP_011536021.1:p.Glu436Ter
XM_011537720.1:c.1306G>T (SH2B3)	XP_011536022.1:p.Glu436Ter
XM_011537720.3:c.1306G>T (SH2B3)	XP_011536022.1:p.Glu436Ter
XM_011537721.1:c.580G>T (SH2B3)	XP_011536023.1:p.Glu194Ter
XM_011537721.3:c.580G>T (SH2B3)	XP_011536023.1:p.Glu194Ter
XR_001748535.1:n.1907G>T (SH2B3)
XR_001748536.1:n.1813G>T (SH2B3)
XR_002957278.1:n.1783G>T (SH2B3)