Canonical Allele Identifier: CA2695217947

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379354dup , CM000675.2:g.32379354dup	GRCh38
NC_000013.10:g.32953491dup , CM000675.1:g.32953491dup	GRCh37
NC_000013.9:g.31851491dup	NCBI36
NG_012772.3:g.68875dup , LRG_293:g.68875dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8792dup	ENSP00000434898.2:p.Asn2931LysfsTer8
ENST00000528762.2:c.*159dup	ENSP00000433168.2:n.*159dup
ENST00000530893.7:c.8423dup	ENSP00000499438.2:p.Asn2808LysfsTer8
ENST00000665585.2:c.*354dup	ENSP00000499570.2:n.*354dup
ENST00000666593.2:c.8792dup	ENSP00000499256.2:p.Asn2931LysfsTer8
ENST00000700202.2:c.8792dup	ENSP00000514856.2:p.Asn2931LysfsTer8
ENST00000700202.1:c.1259dup	ENSP00000514856.1:p.Asn420LysfsTer8
ENST00000700203.1:n.919dup
ENST00000380152.8:c.8792dup MANE Select	ENSP00000369497.3:p.Asn2931LysfsTer8
ENST00000544455.6:c.8792dup	ENSP00000439902.1:p.Asn2931LysfsTer8
ENST00000614259.2:c.8800dup	ENSP00000506251.1:n.8800dup
ENST00000665585.1:c.1670dup
ENST00000680887.1:c.8792dup	ENSP00000505508.1:p.Asn2931LysfsTer8
ENST00000380152.7:c.8792dup	ENSP00000369497.3:p.Asn2931LysfsTer8
ENST00000528762.1:c.354dup	ENSP00000433168.1:n.354dup
ENST00000544455.5:c.8792dup	ENSP00000439902.1:p.Asn2931LysfsTer8
NM_000059.3:c.8792dup , LRG_293t1:c.8792dup	NP_000050.2:p.Asn2931LysfsTer8
XM_011535203.1:c.8792dup	XP_011533505.1:p.Asn2931LysfsTer8
XM_011535204.1:c.8696dup	XP_011533506.1:p.Asn2899LysfsTer8
XM_011535205.1:c.8755-396dup	XP_011533507.1:n.8755-396dup
NM_000059.4:c.8792dup MANE Select	NP_000050.3:p.Asn2931LysfsTer8