Canonical Allele Identifier: CA919242559

Gene: BRCA2

Linked Data

• dbSNP Id: rs1566215885
• gnomAD v4: 13-32319215-CATCTTATA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319219_32319226del , CM000675.2:g.32319219_32319226del	GRCh38
NC_000013.10:g.32893356_32893363del , CM000675.1:g.32893356_32893363del	GRCh37
NC_000013.9:g.31791356_31791363del	NCBI36
NG_012772.3:g.8740_8747del , LRG_293:g.8740_8747del
NG_017006.2:g.1141_1148del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.210_217del	ENSP00000434898.2:p.Tyr71AlafsTer27
ENST00000528762.2:c.210_217del	ENSP00000433168.2:p.Tyr71AlafsTer27
ENST00000530893.7:c.-160_-153del	ENSP00000499438.2:n.-160_-153del
ENST00000665585.2:c.210_217del	ENSP00000499570.2:p.Tyr71AlafsTer27
ENST00000666593.2:c.210_217del	ENSP00000499256.2:p.Tyr71AlafsTer27
ENST00000700202.2:c.210_217del	ENSP00000514856.2:p.Tyr71AlafsTer27
ENST00000700200.1:n.191+2692_191+2699del
ENST00000700201.1:c.210_217del	ENSP00000514855.1:p.Tyr71AlafsTer27
ENST00000380152.8:c.210_217del MANE Select	ENSP00000369497.3:p.Tyr71AlafsTer27
ENST00000544455.6:c.210_217del	ENSP00000439902.1:p.Tyr71AlafsTer27
ENST00000614259.2:c.210_217del	ENSP00000506251.1:p.Tyr71AlafsTer27
ENST00000680887.1:c.210_217del	ENSP00000505508.1:p.Tyr71AlafsTer27
ENST00000380152.7:c.210_217del	ENSP00000369497.3:p.Tyr71AlafsTer27
ENST00000530893.6:n.408_415del
ENST00000544455.5:c.210_217del	ENSP00000439902.1:p.Tyr71AlafsTer27
ENST00000614259.1:n.210_217del
NM_000059.3:c.210_217del , LRG_293t1:c.210_217del	NP_000050.2:p.Tyr71AlafsTer27
XM_011535203.1:c.210_217del	XP_011533505.1:p.Tyr71AlafsTer27
XM_011535204.1:c.210_217del	XP_011533506.1:p.Tyr71AlafsTer27
XM_011535205.1:c.210_217del	XP_011533507.1:p.Tyr71AlafsTer27
NM_000059.4:c.210_217del MANE Select	NP_000050.3:p.Tyr71AlafsTer27