Canonical Allele Identifier: CA2819644

Gene: SH3BP2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.2833768C>T , CM000666.2:g.2833768C>T	GRCh38
NC_000004.11:g.2835495C>T , CM000666.1:g.2835495C>T	GRCh37
NC_000004.10:g.2805293C>T	NCBI36
NG_011609.1:g.45746C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001122681.2:c.1620C>T MANE Select	NP_001116153.1:p.Thr540=
ENST00000503393.8:c.1620C>T MANE Select	ENSP00000422168.3:p.Thr540=
NM_001122681.1:c.1620C>T	NP_001116153.1:p.Thr540=
NM_001145855.1:c.1704C>T	NP_001139327.1:p.Thr568=
NM_001145855.2:c.1704C>T	NP_001139327.1:p.Thr568=
NM_001145856.1:c.1791C>T	NP_001139328.1:p.Thr597=
NM_001145856.2:c.1791C>T	NP_001139328.1:p.Thr597=
NM_003023.4:c.1620C>T	NP_003014.3:p.Thr540=
ENST00000356331.9:c.1620C>T	ENSP00000348685.5:p.Thr540=
ENST00000435136.6:c.1620C>T	ENSP00000403231.2:p.Thr540=
ENST00000435136.8:c.1704C>T	ENSP00000403231.3:p.Thr568=
ENST00000442312.6:c.1704C>T	ENSP00000388152.2:p.Thr568=
ENST00000452765.6:c.1620C>T	ENSP00000409746.2:p.Thr540=
ENST00000452765.7:c.269C>T
ENST00000503393.6:c.1791C>T	ENSP00000422168.2:p.Thr597=
ENST00000510204.5:n.3096C>T
ENST00000511747.5:c.1620C>T	ENSP00000424846.1:p.Thr540=
ENST00000511747.6:c.1791C>T	ENSP00000424846.2:p.Thr597=
ENST00000513069.1:c.674C>T
ENST00000515737.5:c.*1505C>T	ENSP00000422605.1:n.*1505C>T
ENST00000515802.5:n.1726C>T
XM_005247998.3:c.1629C>T	XP_005248055.1:p.Thr543=
XM_005247999.3:c.1620C>T	XP_005248056.1:p.Thr540=
XM_011513547.1:c.1791C>T	XP_011511849.1:p.Thr597=
XM_011513548.1:c.*103C>T	XP_011511850.1:n.*103C>T
XM_011513549.1:c.1620C>T	XP_011511851.1:p.Thr540=
XM_011513550.1:c.1620C>T	XP_011511852.1:p.Thr540=
XM_011513551.1:c.*103C>T	XP_011511853.1:n.*103C>T
XM_011513552.1:c.1449C>T	XP_011511854.1:p.Thr483=
XM_011513553.1:c.1257C>T	XP_011511855.1:p.Thr419=
XM_011513554.1:c.909C>T	XP_011511856.1:p.Thr303=
XM_011513555.1:c.*95C>T	XP_011511857.1:n.*95C>T
XM_011513556.1:c.*95C>T	XP_011511858.1:n.*95C>T
XR_924990.1:n.1693C>T