Canonical Allele Identifier: CA387768055

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398630C>T , CM000675.2:g.32398630C>T	GRCh38
NC_000013.10:g.32972767C>T , CM000675.1:g.32972767C>T	GRCh37
NC_000013.9:g.31870767C>T	NCBI36
NG_012772.3:g.88151C>T , LRG_293:g.88151C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.10117C>T MANE Select	NP_000050.3:p.Pro3373Ser
ENST00000380152.8:c.10117C>T MANE Select	ENSP00000369497.3:p.Pro3373Ser
NM_000059.3:c.10117C>T , LRG_293t1:c.10117C>T	NP_000050.2:p.Pro3373Ser
ENST00000380152.7:c.10117C>T	ENSP00000369497.3:p.Pro3373Ser
ENST00000470094.2:c.*640C>T	ENSP00000434898.2:n.*640C>T
ENST00000528762.2:c.*1484C>T	ENSP00000433168.2:n.*1484C>T
ENST00000530893.7:c.9748C>T	ENSP00000499438.2:p.Pro3250Ser
ENST00000544455.5:c.10117C>T	ENSP00000439902.1:p.Pro3373Ser
ENST00000544455.6:c.10117C>T	ENSP00000439902.1:p.Pro3373Ser
ENST00000614259.2:c.10125C>T	ENSP00000506251.1:n.10125C>T
ENST00000665585.2:c.*1679C>T	ENSP00000499570.2:n.*1679C>T
ENST00000680887.1:c.10117C>T	ENSP00000505508.1:p.Pro3373Ser
ENST00000700202.1:c.2533C>T	ENSP00000514856.1:p.Pro845Ser
ENST00000700202.2:c.10066C>T	ENSP00000514856.2:p.Pro3356Ser
ENST00000700203.1:n.2244C>T
XM_011535203.1:c.10117C>T	XP_011533505.1:p.Pro3373Ser
XM_011535204.1:c.10021C>T	XP_011533506.1:p.Pro3341Ser