Canonical Allele Identifier: CA10602925

Gene: SH3BP2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.2831581C>T , CM000666.2:g.2831581C>T	GRCh38
NC_000004.11:g.2833308C>T , CM000666.1:g.2833308C>T	GRCh37
NC_000004.10:g.2803106C>T	NCBI36
NG_011609.1:g.43559C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435136.8:c.1336C>T	ENSP00000403231.3:p.Pro446Ser
ENST00000503393.8:c.1252C>T MANE Select	ENSP00000422168.3:p.Pro418Ser
ENST00000511747.6:c.1423C>T	ENSP00000424846.2:p.Pro475Ser
ENST00000356331.9:c.1252C>T	ENSP00000348685.5:p.Pro418Ser
ENST00000435136.6:c.1252C>T	ENSP00000403231.2:p.Pro418Ser
ENST00000442312.6:c.1336C>T	ENSP00000388152.2:p.Pro446Ser
ENST00000452765.6:c.1252C>T	ENSP00000409746.2:p.Pro418Ser
ENST00000503393.6:c.1423C>T	ENSP00000422168.2:p.Pro475Ser
ENST00000504450.1:n.549C>T
ENST00000510204.5:n.1729C>T
ENST00000511747.5:c.1252C>T	ENSP00000424846.1:p.Pro418Ser
ENST00000513069.1:c.362C>T
ENST00000515737.5:c.*1137C>T	ENSP00000422605.1:n.*1137C>T
ENST00000515802.5:n.1358C>T
NM_001122681.1:c.1252C>T	NP_001116153.1:p.Pro418Ser
NM_001145855.1:c.1336C>T	NP_001139327.1:p.Pro446Ser
NM_001145856.1:c.1423C>T	NP_001139328.1:p.Pro475Ser
NM_003023.4:c.1252C>T	NP_003014.3:p.Pro418Ser
XM_005247998.3:c.1261C>T	XP_005248055.1:p.Pro421Ser
XM_005247999.3:c.1252C>T	XP_005248056.1:p.Pro418Ser
XM_011513547.1:c.1423C>T	XP_011511849.1:p.Pro475Ser
XM_011513548.1:c.1252C>T	XP_011511850.1:p.Pro418Ser
XM_011513549.1:c.1252C>T	XP_011511851.1:p.Pro418Ser
XM_011513550.1:c.1252C>T	XP_011511852.1:p.Pro418Ser
XM_011513551.1:c.1252C>T	XP_011511853.1:p.Pro418Ser
XM_011513552.1:c.1081C>T	XP_011511854.1:p.Pro361Ser
XM_011513553.1:c.889C>T	XP_011511855.1:p.Pro297Ser
XM_011513554.1:c.597C>T	XP_011511856.1:p.Pro199=
XM_011513555.1:c.597C>T	XP_011511857.1:p.Pro199=
XM_011513556.1:c.597C>T	XP_011511858.1:p.Pro199=
XR_924990.1:n.1256C>T
NM_001122681.2:c.1252C>T MANE Select	NP_001116153.1:p.Pro418Ser
NM_001145855.2:c.1336C>T	NP_001139327.1:p.Pro446Ser
NM_001145856.2:c.1423C>T	NP_001139328.1:p.Pro475Ser