Canonical Allele Identifier: CA645509333

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363408del , CM000675.2:g.32363408del	GRCh38
NC_000013.10:g.32937545del , CM000675.1:g.32937545del	GRCh37
NC_000013.9:g.31835545del	NCBI36
NG_012772.3:g.52929del , LRG_293:g.52929del

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.8206del MANE Select	NP_000050.3:p.Leu2736SerfsTer2
ENST00000380152.8:c.8206del MANE Select	ENSP00000369497.3:p.Leu2736SerfsTer2
NM_000059.3:c.8206del , LRG_293t1:c.8206del	NP_000050.2:p.Leu2736SerfsTer2
ENST00000380152.7:c.8206del	ENSP00000369497.3:p.Leu2736SerfsTer2
ENST00000470094.2:c.8206del	ENSP00000434898.2:p.Leu2736SerfsTer2
ENST00000528762.2:c.8206del	ENSP00000433168.2:p.Leu2736SerfsTer2
ENST00000530893.7:c.7837del	ENSP00000499438.2:p.Leu2613SerfsTer2
ENST00000544455.5:c.8206del	ENSP00000439902.1:p.Leu2736SerfsTer2
ENST00000544455.6:c.8206del	ENSP00000439902.1:p.Leu2736SerfsTer2
ENST00000614259.2:c.8214del	ENSP00000506251.1:n.8214del
ENST00000665585.1:c.771del
ENST00000665585.2:c.8206del	ENSP00000499570.2:p.Leu2736SerfsTer2
ENST00000666593.2:c.8206del	ENSP00000499256.2:p.Leu2736SerfsTer2
ENST00000680887.1:c.8206del	ENSP00000505508.1:p.Leu2736SerfsTer2
ENST00000700202.1:c.673del	ENSP00000514856.1:p.Leu225SerfsTer2
ENST00000700202.2:c.8206del	ENSP00000514856.2:p.Leu2736SerfsTer2
XM_011535203.1:c.8206del	XP_011533505.1:p.Leu2736SerfsTer2
XM_011535204.1:c.8110del	XP_011533506.1:p.Leu2704SerfsTer2
XM_011535205.1:c.8206del	XP_011533507.1:p.Leu2736SerfsTer2