Canonical Allele Identifier: CA2499222149

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1076384
• ClinVar RCV Id: RCV001390284 ; RCV003584919
• dbSNP Id: rs2137501640

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32338323_32338324del , CM000675.2:g.32338323_32338324del	GRCh38
NC_000013.10:g.32912460_32912461del , CM000675.1:g.32912460_32912461del	GRCh37
NC_000013.9:g.31810460_31810461del	NCBI36
NG_012772.3:g.27844_27845del , LRG_293:g.27844_27845del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.3968_3969del	ENSP00000434898.2:p.Lys1323IlefsTer6
ENST00000528762.2:c.3968_3969del	ENSP00000433168.2:p.Lys1323IlefsTer6
ENST00000530893.7:c.3599_3600del	ENSP00000499438.2:p.Lys1200IlefsTer6
ENST00000665585.2:c.3968_3969del	ENSP00000499570.2:p.Lys1323IlefsTer6
ENST00000666593.2:c.3968_3969del	ENSP00000499256.2:p.Lys1323IlefsTer6
ENST00000700202.2:c.3968_3969del	ENSP00000514856.2:p.Lys1323IlefsTer6
ENST00000380152.8:c.3968_3969del MANE Select	ENSP00000369497.3:p.Lys1323IlefsTer6
ENST00000544455.6:c.3968_3969del	ENSP00000439902.1:p.Lys1323IlefsTer6
ENST00000614259.2:c.3968_3969del	ENSP00000506251.1:p.Lys1323IlefsTer6
ENST00000680887.1:c.3968_3969del	ENSP00000505508.1:p.Lys1323IlefsTer6
ENST00000380152.7:c.3968_3969del	ENSP00000369497.3:p.Lys1323IlefsTer6
ENST00000544455.5:c.3968_3969del	ENSP00000439902.1:p.Lys1323IlefsTer6
ENST00000614259.1:n.3968_3969del
NM_000059.3:c.3968_3969del , LRG_293t1:c.3968_3969del	NP_000050.2:p.Lys1323IlefsTer6
XM_011535203.1:c.3968_3969del	XP_011533505.1:p.Lys1323IlefsTer6
XM_011535204.1:c.3968_3969del	XP_011533506.1:p.Lys1323IlefsTer6
XM_011535205.1:c.3968_3969del	XP_011533507.1:p.Lys1323IlefsTer6
NM_000059.4:c.3968_3969del MANE Select	NP_000050.3:p.Lys1323IlefsTer6