Canonical Allele Identifier: CA395424503

Gene: SH2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28866845G>C , CM000678.2:g.28866845G>C	GRCh38
NC_000016.9:g.28878166G>C , CM000678.1:g.28878166G>C	GRCh37
NC_000016.8:g.28785667G>C	NCBI36
NG_029706.2:g.25246G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001387430.1:c.751G>C MANE Select	NP_001374359.1:p.Glu251Gln
ENST00000684370.1:c.751G>C MANE Select	ENSP00000507475.1:p.Glu251Gln
NM_001145795.1:c.751G>C	NP_001139267.1:p.Glu251Gln
NM_001145795.2:c.751G>C	NP_001139267.1:p.Glu251Gln
NM_001145796.1:c.751G>C	NP_001139268.1:p.Glu251Gln
NM_001145796.2:c.751G>C	NP_001139268.1:p.Glu251Gln
NM_001145797.1:c.751G>C	NP_001139269.1:p.Glu251Gln
NM_001145797.2:c.751G>C	NP_001139269.1:p.Glu251Gln
NM_001145812.1:c.751G>C	NP_001139284.1:p.Glu251Gln
NM_001145812.2:c.751G>C	NP_001139284.1:p.Glu251Gln
NM_001308293.1:c.751G>C	NP_001295222.1:p.Glu251Gln
NM_001308293.2:c.751G>C	NP_001295222.1:p.Glu251Gln
NM_001308294.1:c.-26-529G>C	NP_001295223.1:n.-26-529G>C
NM_001308294.2:c.-26-529G>C	NP_001295223.1:n.-26-529G>C
NM_001387404.1:c.751G>C	NP_001374333.1:p.Glu251Gln
NM_015503.2:c.751G>C	NP_056318.2:p.Glu251Gln
NM_015503.3:c.751G>C	NP_056318.2:p.Glu251Gln
ENST00000322610.12:c.751G>C	ENSP00000321221.7:p.Glu251Gln
ENST00000337120.9:c.751G>C	ENSP00000337163.5:p.Glu251Gln
ENST00000359285.10:c.751G>C	ENSP00000352232.5:p.Glu251Gln
ENST00000359285.9:c.751G>C	ENSP00000352232.5:p.Glu251Gln
ENST00000395532.8:c.751G>C	ENSP00000378903.4:p.Glu251Gln
ENST00000538342.5:c.-26-529G>C	ENSP00000438784.1:n.-26-529G>C
ENST00000545570.5:c.10-486G>C	ENSP00000440354.1:n.10-486G>C
ENST00000563674.1:n.68+2900G>C
ENST00000566176.5:c.43+168G>C	ENSP00000455534.1:n.43+168G>C
ENST00000567536.5:c.-28-2363G>C	ENSP00000455236.1:n.-28-2363G>C
ENST00000618521.4:c.751G>C	ENSP00000481709.1:p.Glu251Gln
ENST00000707128.1:c.751G>C	ENSP00000516756.1:p.Glu251Gln
XM_006721031.2:c.751G>C	XP_006721094.1:p.Glu251Gln
XM_006721032.2:c.751G>C	XP_006721095.1:p.Glu251Gln
XM_006721033.2:c.751G>C	XP_006721096.1:p.Glu251Gln
XM_006721034.2:c.751G>C	XP_006721097.1:p.Glu251Gln
XM_006721037.2:c.-26-529G>C	XP_006721100.1:n.-26-529G>C
XM_011545787.1:c.751G>C	XP_011544089.1:p.Glu251Gln
XM_011545788.1:c.751G>C	XP_011544090.1:p.Glu251Gln
XM_017023114.1:c.751G>C	XP_016878603.1:p.Glu251Gln
XM_017023115.1:c.751G>C	XP_016878604.1:p.Glu251Gln
XM_017023116.1:c.751G>C	XP_016878605.1:p.Glu251Gln
XM_017023117.1:c.751G>C	XP_016878606.1:p.Glu251Gln
XM_017023118.1:c.-26-529G>C	XP_016878607.1:n.-26-529G>C
XM_017023119.1:c.-26-529G>C	XP_016878608.1:n.-26-529G>C
XM_024450225.1:c.751G>C	XP_024305993.1:p.Glu251Gln
XR_001751890.2:n.1442G>C
XR_950774.1:n.1442G>C