Canonical Allele Identifier: CA2580611892

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398599_32398884del , CM000675.2:g.32398599_32398884del	GRCh38
NC_000013.10:g.32972736_32973021del , CM000675.1:g.32972736_32973021del	GRCh37
NC_000013.9:g.31870736_31871021del	NCBI36
NG_012772.3:g.88120_88405del , LRG_293:g.88120_88405del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*609_*894del	ENSP00000434898.2:n.*609_*894del
ENST00000528762.2:c.*1453_*1738del	ENSP00000433168.2:n.*1453_*1738del
ENST00000530893.7:c.9717_*114del	ENSP00000499438.2:n.[c.9717_*114del;Phe3239LeufsTer?]
ENST00000665585.2:c.*1648_*1933del	ENSP00000499570.2:n.*1648_*1933del
ENST00000700202.2:c.10035_*114del	ENSP00000514856.2:n.[c.10035_*114del;Phe3345LeufsTer?]
ENST00000700203.1:n.2213_2498del
ENST00000380152.8:c.10086_*114del MANE Select	ENSP00000369497.3:n.[c.10086_*114del;Phe3362LeufsTer?]
ENST00000544455.6:c.10086_*114del	ENSP00000439902.1:n.[c.10086_*114del;Phe3362LeufsTer?]
ENST00000614259.2:c.10094_10379del	ENSP00000506251.1:n.10094_10379del
ENST00000680887.1:c.10086_*114del	ENSP00000505508.1:n.[c.10086_*114del;Phe3362LeufsTer?]
ENST00000380152.7:c.10086_*114del	ENSP00000369497.3:n.[c.10086_*114del;Phe3362LeufsTer?]
ENST00000544455.5:c.10086_*114del	ENSP00000439902.1:n.[c.10086_*114del;Phe3362LeufsTer?]
NM_000059.3:c.10086_*114del , LRG_293t1:c.10086_*114del	NP_000050.2:n.[c.10086_*114del;Phe3362LeufsTer?]
XM_011535203.1:c.10086_*114del	XP_011533505.1:n.[c.10086_*114del;Phe3362LeufsTer?]
XM_011535204.1:c.9990_*114del	XP_011533506.1:n.[c.9990_*114del;Phe3330LeufsTer?]
NM_000059.4:c.10086_*114del MANE Select	NP_000050.3:n.[c.10086_*114del;Phe3362LeufsTer?]