Canonical Allele Identifier: CA2622599506

Gene: BRCA2

Linked Data

• gnomAD v4: 13-32319246-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319249_32319250del , CM000675.2:g.32319249_32319250del	GRCh38
NC_000013.10:g.32893386_32893387del , CM000675.1:g.32893386_32893387del	GRCh37
NC_000013.9:g.31791386_31791387del	NCBI36
NG_012772.3:g.8770_8771del , LRG_293:g.8770_8771del
NG_017006.2:g.1116_1117del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.240_241del	ENSP00000434898.2:p.Phe81GlnfsTer19
ENST00000528762.2:c.240_241del	ENSP00000433168.2:p.Phe81GlnfsTer19
ENST00000530893.7:c.-130_-129del	ENSP00000499438.2:n.-130_-129del
ENST00000665585.2:c.240_241del	ENSP00000499570.2:p.Phe81GlnfsTer19
ENST00000666593.2:c.240_241del	ENSP00000499256.2:p.Phe81GlnfsTer19
ENST00000700202.2:c.240_241del	ENSP00000514856.2:p.Phe81GlnfsTer19
ENST00000700200.1:n.191+2722_191+2723del
ENST00000700201.1:c.240_241del	ENSP00000514855.1:p.Phe81GlnfsTer19
ENST00000380152.8:c.240_241del MANE Select	ENSP00000369497.3:p.Phe81GlnfsTer19
ENST00000544455.6:c.240_241del	ENSP00000439902.1:p.Phe81GlnfsTer19
ENST00000614259.2:c.240_241del	ENSP00000506251.1:p.Phe81GlnfsTer19
ENST00000680887.1:c.240_241del	ENSP00000505508.1:p.Phe81GlnfsTer19
ENST00000380152.7:c.240_241del	ENSP00000369497.3:p.Phe81GlnfsTer19
ENST00000530893.6:n.438_439del
ENST00000544455.5:c.240_241del	ENSP00000439902.1:p.Phe81GlnfsTer19
ENST00000614259.1:n.240_241del
NM_000059.3:c.240_241del , LRG_293t1:c.240_241del	NP_000050.2:p.Phe81GlnfsTer19
XM_011535203.1:c.240_241del	XP_011533505.1:p.Phe81GlnfsTer19
XM_011535204.1:c.240_241del	XP_011533506.1:p.Phe81GlnfsTer19
XM_011535205.1:c.240_241del	XP_011533507.1:p.Phe81GlnfsTer19
NM_000059.4:c.240_241del MANE Select	NP_000050.3:p.Phe81GlnfsTer19