Canonical Allele Identifier: CA658797951

Gene: SH2B3 ATXN2

Linked Data

• ClinVar Variation Id: 501688
• ClinVar RCV Id: RCV000591141
• dbSNP Id: rs1555227037
• MyVariant Identifiers: chr12:g.111884819_111884829del (hg19) ; chr12:g.111447015_111447025del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111447015_111447025del , CM000674.2:g.111447015_111447025del	GRCh38
NC_000012.11:g.111884819_111884829del , CM000674.1:g.111884819_111884829del	GRCh37
NC_000012.10:g.110369202_110369212del	NCBI36
NG_021216.1:g.46068_46078del , LRG_621:g.46068_46078del
NG_011572.3:g.157652_157662del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341259.7:c.908_918del (SH2B3) MANE Select	ENSP00000345492.2:p.Ser303TrpfsTer20
ENST00000642389.2:c.*171-2838_*171-2828del (ATXN2)	ENSP00000496055.2:n.*171-2838_*171-2828del
ENST00000341259.6:c.908_918del (SH2B3)	ENSP00000345492.2:p.Ser303TrpfsTer20
ENST00000538307.1:c.302_312del (SH2B3)	ENSP00000440597.1:p.Ser101TrpfsTer20
NM_001291424.1:c.302_312del , LRG_621t2:c.302_312del (SH2B3)	NP_001278353.1:p.Ser101TrpfsTer20
NM_005475.2:c.908_918del , LRG_621t1:c.908_918del (SH2B3)	NP_005466.1:p.Ser303TrpfsTer20
XM_005253818.3:c.1028_1038del (SH2B3)	XP_005253875.1:p.Ser343TrpfsTer20
XM_005253819.3:c.908_918del (SH2B3)	XP_005253876.1:p.Ser303TrpfsTer21
XM_006719180.2:c.107_117del (SH2B3)	XP_006719243.1:p.Ser36TrpfsTer21
XM_011537719.1:c.1028_1038del (SH2B3)	XP_011536021.1:p.Ser343TrpfsTer21
XM_011537720.1:c.1028_1038del (SH2B3)	XP_011536022.1:p.Ser343TrpfsTer21
XM_011537721.1:c.302_312del (SH2B3)	XP_011536023.1:p.Ser101TrpfsTer21
XM_011537722.1:c.*76_*86del (SH2B3)	XP_011536024.1:n.*76_*86del
XM_005253818.4:c.1028_1038del (SH2B3)	XP_005253875.1:p.Ser343TrpfsTer20
XM_005253819.4:c.908_918del (SH2B3)	XP_005253876.1:p.Ser303TrpfsTer21
XM_006719180.4:c.107_117del (SH2B3)	XP_006719243.1:p.Ser36TrpfsTer21
XM_011537719.2:c.1028_1038del (SH2B3)	XP_011536021.1:p.Ser343TrpfsTer21
XM_011537720.3:c.1028_1038del (SH2B3)	XP_011536022.1:p.Ser343TrpfsTer21
XM_011537721.3:c.302_312del (SH2B3)	XP_011536023.1:p.Ser101TrpfsTer21
XR_001748535.1:n.1632_1642del (SH2B3)
XR_001748536.1:n.1538_1548del (SH2B3)
XR_002957278.1:n.1508_1518del (SH2B3)
NM_005475.3:c.908_918del (SH2B3) MANE Select	NP_005466.1:p.Ser303TrpfsTer20