Canonical Allele Identifier: CA2740098028

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32332506_32332525del , CM000675.2:g.32332506_32332525del	GRCh38
NC_000013.10:g.32906643_32906662del , CM000675.1:g.32906643_32906662del	GRCh37
NC_000013.9:g.31804643_31804662del	NCBI36
NG_012772.3:g.22027_22046del , LRG_293:g.22027_22046del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.1028_1047del	ENSP00000434898.2:p.Lys343ArgfsTer8
ENST00000528762.2:c.1028_1047del	ENSP00000433168.2:p.Lys343ArgfsTer8
ENST00000530893.7:c.659_678del	ENSP00000499438.2:p.Lys220ArgfsTer8
ENST00000665585.2:c.1028_1047del	ENSP00000499570.2:p.Lys343ArgfsTer8
ENST00000666593.2:c.1028_1047del	ENSP00000499256.2:p.Lys343ArgfsTer8
ENST00000700202.2:c.1028_1047del	ENSP00000514856.2:p.Lys343ArgfsTer8
ENST00000700201.1:c.*807_*826del	ENSP00000514855.1:n.*807_*826del
ENST00000380152.8:c.1028_1047del MANE Select	ENSP00000369497.3:p.Lys343ArgfsTer8
ENST00000544455.6:c.1028_1047del	ENSP00000439902.1:p.Lys343ArgfsTer8
ENST00000614259.2:c.1028_1047del	ENSP00000506251.1:p.Lys343ArgfsTer8
ENST00000680887.1:c.1028_1047del	ENSP00000505508.1:p.Lys343ArgfsTer8
ENST00000380152.7:c.1028_1047del	ENSP00000369497.3:p.Lys343ArgfsTer8
ENST00000530893.6:n.1226_1245del
ENST00000544455.5:c.1028_1047del	ENSP00000439902.1:p.Lys343ArgfsTer8
ENST00000614259.1:n.1028_1047del
NM_000059.3:c.1028_1047del , LRG_293t1:c.1028_1047del	NP_000050.2:p.Lys343ArgfsTer8
XM_011535203.1:c.1028_1047del	XP_011533505.1:p.Lys343ArgfsTer8
XM_011535204.1:c.1028_1047del	XP_011533506.1:p.Lys343ArgfsTer8
XM_011535205.1:c.1028_1047del	XP_011533507.1:p.Lys343ArgfsTer8
NM_000059.4:c.1028_1047del MANE Select	NP_000050.3:p.Lys343ArgfsTer8