Canonical Allele Identifier: CA3249353636

Gene: SH2B3 ATXN2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111446803_111446804delinsAC , CM000674.2:g.111446803_111446804delinsAC	GRCh38
NC_000012.11:g.111884607_111884608delinsAC , CM000674.1:g.111884607_111884608delinsAC	GRCh37
NC_000012.10:g.110368990_110368991delinsAC	NCBI36
NG_021216.1:g.45856_45857delinsAC , LRG_621:g.45856_45857delinsAC
NG_011572.3:g.157873_157874delinsGT

Transcript Alleles

HGVS	Amino-acid Change
NM_005475.3:c.783_784delinsAC (SH2B3) MANE Select	NP_005466.1:p.Trp262Arg
ENST00000341259.7:c.783_784delinsAC (SH2B3) MANE Select	ENSP00000345492.2:p.Trp262Arg
NM_001291424.1:c.177_178delinsAC , LRG_621t2:c.177_178delinsAC (SH2B3)	NP_001278353.1:p.Trp60Arg
NM_005475.2:c.783_784delinsAC , LRG_621t1:c.783_784delinsAC (SH2B3)	NP_005466.1:p.Trp262Arg
ENST00000341259.6:c.783_784delinsAC (SH2B3)	ENSP00000345492.2:p.Trp262Arg
ENST00000538307.1:c.177_178delinsAC (SH2B3)	ENSP00000440597.1:p.Trp60Arg
ENST00000642389.2:c.*171-2617_*171-2616delinsGT (ATXN2)	ENSP00000496055.2:n.*171-2617_*171-2616delinsGT
XM_005253818.3:c.903_904delinsAC (SH2B3)	XP_005253875.1:p.Trp302Arg
XM_005253818.4:c.903_904delinsAC (SH2B3)	XP_005253875.1:p.Trp302Arg
XM_005253819.3:c.783_784delinsAC (SH2B3)	XP_005253876.1:p.Trp262Arg
XM_005253819.4:c.783_784delinsAC (SH2B3)	XP_005253876.1:p.Trp262Arg
XM_006719180.2:c.-19_-18delinsAC (SH2B3)	XP_006719243.1:n.-19_-18delinsAC
XM_006719180.4:c.-19_-18delinsAC (SH2B3)	XP_006719243.1:n.-19_-18delinsAC
XM_011537719.1:c.903_904delinsAC (SH2B3)	XP_011536021.1:p.Trp302Arg
XM_011537719.2:c.903_904delinsAC (SH2B3)	XP_011536021.1:p.Trp302Arg
XM_011537720.1:c.903_904delinsAC (SH2B3)	XP_011536022.1:p.Trp302Arg
XM_011537720.3:c.903_904delinsAC (SH2B3)	XP_011536022.1:p.Trp302Arg
XM_011537721.1:c.177_178delinsAC (SH2B3)	XP_011536023.1:p.Trp60Arg
XM_011537721.3:c.177_178delinsAC (SH2B3)	XP_011536023.1:p.Trp60Arg
XM_011537722.1:c.1013_1014delinsAC (SH2B3)	XP_011536024.1:p.Gly338Asp
XM_024448790.1:c.*51_*52delinsAC (SH2B3)	XP_024304558.1:n.*51_*52delinsAC
XR_001748535.1:n.1507_1508delinsAC (SH2B3)
XR_001748536.1:n.1413_1414delinsAC (SH2B3)
XR_002957278.1:n.1383_1384delinsAC (SH2B3)