Canonical Allele Identifier: CA2499222352

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376750del , CM000675.2:g.32376750del	GRCh38
NC_000013.10:g.32950887del , CM000675.1:g.32950887del	GRCh37
NC_000013.9:g.31848887del	NCBI36
NG_012772.3:g.66271del , LRG_293:g.66271del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8713del	ENSP00000434898.2:p.Tyr2905MetfsTer4
ENST00000528762.2:c.*80del	ENSP00000433168.2:n.*80del
ENST00000530893.7:c.8344del	ENSP00000499438.2:p.Tyr2782MetfsTer4
ENST00000665585.2:c.*275del	ENSP00000499570.2:n.*275del
ENST00000666593.2:c.8713del	ENSP00000499256.2:p.Tyr2905MetfsTer4
ENST00000700202.2:c.8713del	ENSP00000514856.2:p.Tyr2905MetfsTer4
ENST00000700202.1:c.1180del	ENSP00000514856.1:p.Tyr394MetfsTer4
ENST00000700203.1:n.840del
ENST00000380152.8:c.8713del MANE Select	ENSP00000369497.3:p.Tyr2905MetfsTer4
ENST00000544455.6:c.8713del	ENSP00000439902.1:p.Tyr2905MetfsTer4
ENST00000614259.2:c.8721del	ENSP00000506251.1:n.8721del
ENST00000665585.1:c.1591del
ENST00000680887.1:c.8713del	ENSP00000505508.1:p.Tyr2905MetfsTer4
ENST00000380152.7:c.8713del	ENSP00000369497.3:p.Tyr2905MetfsTer4
ENST00000528762.1:c.275del	ENSP00000433168.1:n.275del
ENST00000544455.5:c.8713del	ENSP00000439902.1:p.Tyr2905MetfsTer4
NM_000059.3:c.8713del , LRG_293t1:c.8713del	NP_000050.2:p.Tyr2905MetfsTer4
XM_011535203.1:c.8713del	XP_011533505.1:p.Tyr2905MetfsTer4
XM_011535204.1:c.8617del	XP_011533506.1:p.Tyr2873MetfsTer4
XM_011535205.1:c.8713del	XP_011533507.1:p.Tyr2905MetfsTer4
NM_000059.4:c.8713del MANE Select	NP_000050.3:p.Tyr2905MetfsTer4