Canonical Allele Identifier: CA483440157

Gene: BRCA2

Linked Data

• COSMIC: COSM69101
• MyVariant Identifiers: chr13:g.32972481del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398344del , CM000675.2:g.32398344del	GRCh38
NC_000013.10:g.32972481del , CM000675.1:g.32972481del	GRCh37
NC_000013.9:g.31870481del	NCBI36
NG_012772.3:g.87865del , LRG_293:g.87865del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*354del	ENSP00000434898.2:n.*354del
ENST00000528762.2:c.*1198del	ENSP00000433168.2:n.*1198del
ENST00000530893.7:c.9462del	ENSP00000499438.2:p.Pro3155LeufsTer?
ENST00000665585.2:c.*1393del	ENSP00000499570.2:n.*1393del
ENST00000700202.2:c.9780del	ENSP00000514856.2:p.Pro3261LeufsTer?
ENST00000700202.1:c.2247del	ENSP00000514856.1:p.Pro750LeufsTer?
ENST00000700203.1:n.1958del
ENST00000380152.8:c.9831del MANE Select	ENSP00000369497.3:p.Pro3278LeufsTer?
ENST00000544455.6:c.9831del	ENSP00000439902.1:p.Pro3278LeufsTer?
ENST00000614259.2:c.9839del	ENSP00000506251.1:n.9839del
ENST00000680887.1:c.9831del	ENSP00000505508.1:p.Pro3278LeufsTer?
ENST00000380152.7:c.9831del	ENSP00000369497.3:p.Pro3278LeufsTer?
ENST00000533776.1:n.419del
ENST00000544455.5:c.9831del	ENSP00000439902.1:p.Pro3278LeufsTer?
NM_000059.3:c.9831del , LRG_293t1:c.9831del	NP_000050.2:p.Pro3278LeufsTer?
XM_011535203.1:c.9831del	XP_011533505.1:p.Pro3278LeufsTer?
XM_011535204.1:c.9735del	XP_011533506.1:p.Pro3246LeufsTer?
NM_000059.4:c.9831del MANE Select	NP_000050.3:p.Pro3278LeufsTer?