Canonical Allele Identifier: CA243598589

Gene: SH2B3 ATXN2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111447395C>T , CM000674.2:g.111447395C>T	GRCh38
NC_000012.11:g.111885199C>T , CM000674.1:g.111885199C>T	GRCh37
NC_000012.10:g.110369582C>T	NCBI36
NG_021216.1:g.46448C>T , LRG_621:g.46448C>T
NG_011572.3:g.157282G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005475.3:c.1087C>T (SH2B3) MANE Select	NP_005466.1:p.Pro363Ser
ENST00000341259.7:c.1087C>T (SH2B3) MANE Select	ENSP00000345492.2:p.Pro363Ser
NM_001291424.1:c.481C>T , LRG_621t2:c.481C>T (SH2B3)	NP_001278353.1:p.Pro161Ser
NM_005475.2:c.1087C>T , LRG_621t1:c.1087C>T (SH2B3)	NP_005466.1:p.Pro363Ser
ENST00000341259.6:c.1087C>T (SH2B3)	ENSP00000345492.2:p.Pro363Ser
ENST00000538307.1:c.481C>T (SH2B3)	ENSP00000440597.1:p.Pro161Ser
ENST00000642389.2:c.*171-3208G>A (ATXN2)	ENSP00000496055.2:n.*171-3208G>A
XM_005253818.3:c.1207C>T (SH2B3)	XP_005253875.1:p.Pro403Ser
XM_005253818.4:c.1207C>T (SH2B3)	XP_005253875.1:p.Pro403Ser
XM_005253819.3:c.1090C>T (SH2B3)	XP_005253876.1:p.Pro364Ser
XM_005253819.4:c.1090C>T (SH2B3)	XP_005253876.1:p.Pro364Ser
XM_006719180.2:c.289C>T (SH2B3)	XP_006719243.1:p.Pro97Ser
XM_006719180.4:c.289C>T (SH2B3)	XP_006719243.1:p.Pro97Ser
XM_011537719.1:c.1210C>T (SH2B3)	XP_011536021.1:p.Pro404Ser
XM_011537719.2:c.1210C>T (SH2B3)	XP_011536021.1:p.Pro404Ser
XM_011537720.1:c.1210C>T (SH2B3)	XP_011536022.1:p.Pro404Ser
XM_011537720.3:c.1210C>T (SH2B3)	XP_011536022.1:p.Pro404Ser
XM_011537721.1:c.484C>T (SH2B3)	XP_011536023.1:p.Pro162Ser
XM_011537721.3:c.484C>T (SH2B3)	XP_011536023.1:p.Pro162Ser
XR_001748535.1:n.1811C>T (SH2B3)
XR_001748536.1:n.1717C>T (SH2B3)
XR_002957278.1:n.1687C>T (SH2B3)