Canonical Allele Identifier: CA395394336
Gene: SH2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28869279A>G , CM000678.2:g.28869279A>G GRCh38
NC_000016.9:g.28880600A>G , CM000678.1:g.28880600A>G GRCh37
NC_000016.8:g.28788101A>G NCBI36
NG_029706.2:g.27680A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001387430.1:c.1205A>G MANE Select NP_001374359.1:p.Glu402Gly
ENST00000684370.1:c.1205A>G MANE Select ENSP00000507475.1:p.Glu402Gly
NM_001145795.1:c.1205A>G NP_001139267.1:p.Glu402Gly
NM_001145795.2:c.1205A>G NP_001139267.1:p.Glu402Gly
NM_001145796.1:c.1205A>G NP_001139268.1:p.Glu402Gly
NM_001145796.2:c.1205A>G NP_001139268.1:p.Glu402Gly
NM_001145797.1:c.1205A>G NP_001139269.1:p.Glu402Gly
NM_001145797.2:c.1205A>G NP_001139269.1:p.Glu402Gly
NM_001145812.1:c.1205A>G NP_001139284.1:p.Glu402Gly
NM_001145812.2:c.1205A>G NP_001139284.1:p.Glu402Gly
NM_001308293.1:c.1205A>G NP_001295222.1:p.Glu402Gly
NM_001308293.2:c.1205A>G NP_001295222.1:p.Glu402Gly
NM_001308294.1:c.197A>G NP_001295223.1:p.Glu66Gly
NM_001308294.2:c.197A>G NP_001295223.1:p.Glu66Gly
NM_001387404.1:c.1205A>G NP_001374333.1:p.Glu402Gly
NM_015503.2:c.1205A>G NP_056318.2:p.Glu402Gly
NM_015503.3:c.1205A>G NP_056318.2:p.Glu402Gly
ENST00000322610.12:c.1205A>G ENSP00000321221.7:p.Glu402Gly
ENST00000337120.9:c.1205A>G ENSP00000337163.5:p.Glu402Gly
ENST00000359285.10:c.1205A>G ENSP00000352232.5:p.Glu402Gly
ENST00000359285.9:c.1205A>G ENSP00000352232.5:p.Glu402Gly
ENST00000395532.8:c.1205A>G ENSP00000378903.4:p.Glu402Gly
ENST00000538342.5:c.197A>G ENSP00000438784.1:p.Glu66Gly
ENST00000545570.5:c.275A>G ENSP00000440354.1:p.Glu92Gly
ENST00000561629.1:c.128A>G ENSP00000454601.1:p.Glu43Gly
ENST00000563674.1:n.69-3649A>G
ENST00000566176.5:c.266A>G ENSP00000455534.1:p.Glu89Gly
ENST00000567536.5:c.44A>G ENSP00000455236.1:p.Glu15Gly
ENST00000569471.1:n.76A>G
ENST00000618521.4:c.1205A>G ENSP00000481709.1:p.Glu402Gly
ENST00000707128.1:c.1205A>G ENSP00000516756.1:p.Glu402Gly
XM_006721031.2:c.1205A>G XP_006721094.1:p.Glu402Gly
XM_006721032.2:c.1205A>G XP_006721095.1:p.Glu402Gly
XM_006721033.2:c.1205A>G XP_006721096.1:p.Glu402Gly
XM_006721034.2:c.1205A>G XP_006721097.1:p.Glu402Gly
XM_006721037.2:c.197A>G XP_006721100.1:p.Glu66Gly
XM_011545787.1:c.1205A>G XP_011544089.1:p.Glu402Gly
XM_011545788.1:c.1205A>G XP_011544090.1:p.Glu402Gly
XM_017023114.1:c.1205A>G XP_016878603.1:p.Glu402Gly
XM_017023115.1:c.1205A>G XP_016878604.1:p.Glu402Gly
XM_017023116.1:c.1205A>G XP_016878605.1:p.Glu402Gly
XM_017023117.1:c.1205A>G XP_016878606.1:p.Glu402Gly
XM_017023118.1:c.197A>G XP_016878607.1:p.Glu66Gly
XM_017023119.1:c.197A>G XP_016878608.1:p.Glu66Gly
XM_017023120.1:c.110A>G XP_016878609.1:p.Glu37Gly
XM_024450225.1:c.1205A>G XP_024305993.1:p.Glu402Gly
XM_024450226.1:c.197A>G XP_024305994.1:p.Glu66Gly
XR_001751890.2:n.1896A>G
XR_950774.1:n.1919A>G