Canonical Allele Identifier: CA2838032546

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363193_32363206del , CM000675.2:g.32363193_32363206del	GRCh38
NC_000013.10:g.32937330_32937343del , CM000675.1:g.32937330_32937343del	GRCh37
NC_000013.9:g.31835330_31835343del	NCBI36
NG_012772.3:g.52714_52727del , LRG_293:g.52714_52727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7991_8004del	ENSP00000434898.2:p.Ile2664LysfsTer12
ENST00000528762.2:c.7991_8004del	ENSP00000433168.2:p.Ile2664LysfsTer12
ENST00000530893.7:c.7622_7635del	ENSP00000499438.2:p.Ile2541LysfsTer12
ENST00000665585.2:c.7991_8004del	ENSP00000499570.2:p.Ile2664LysfsTer12
ENST00000666593.2:c.7991_8004del	ENSP00000499256.2:p.Ile2664LysfsTer12
ENST00000700202.2:c.7991_8004del	ENSP00000514856.2:p.Ile2664LysfsTer12
ENST00000700202.1:c.458_471del	ENSP00000514856.1:p.Ile153LysfsTer12
ENST00000380152.8:c.7991_8004del MANE Select	ENSP00000369497.3:p.Ile2664LysfsTer12
ENST00000544455.6:c.7991_8004del	ENSP00000439902.1:p.Ile2664LysfsTer12
ENST00000614259.2:c.7999_8012del	ENSP00000506251.1:n.7999_8012del
ENST00000665585.1:c.556_569del
ENST00000680887.1:c.7991_8004del	ENSP00000505508.1:p.Ile2664LysfsTer12
ENST00000380152.7:c.7991_8004del	ENSP00000369497.3:p.Ile2664LysfsTer12
ENST00000544455.5:c.7991_8004del	ENSP00000439902.1:p.Ile2664LysfsTer12
NM_000059.3:c.7991_8004del , LRG_293t1:c.7991_8004del	NP_000050.2:p.Ile2664LysfsTer12
XM_011535203.1:c.7991_8004del	XP_011533505.1:p.Ile2664LysfsTer12
XM_011535204.1:c.7895_7908del	XP_011533506.1:p.Ile2632LysfsTer12
XM_011535205.1:c.7991_8004del	XP_011533507.1:p.Ile2664LysfsTer12
NM_000059.4:c.7991_8004del MANE Select	NP_000050.3:p.Ile2664LysfsTer12