Canonical Allele Identifier: CA247478062

Gene: BRCA2

Linked Data

• dbSNP Id: rs965500519
• gnomAD v2: 13-32889665-A-ACTGCTGCGCCT
• gnomAD v3: 13-32315528-A-ACTGCTGCGCCT
• gnomAD v4: 13-32315528-A-ACTGCTGCGCCT
• MyVariant Identifiers: chr13:g.32889665_32889666insCTGCTGCGCCT (hg19) ; chr13:g.32315528_32315529insCTGCTGCGCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32315541_32315551dup , CM000675.2:g.32315541_32315551dup	GRCh38
NC_000013.10:g.32889678_32889688dup , CM000675.1:g.32889678_32889688dup	GRCh37
NC_000013.9:g.31787678_31787688dup	NCBI36
NG_012772.3:g.5062_5072dup , LRG_293:g.5062_5072dup
NG_017006.1:g.1416_1426dup
NG_017006.2:g.4825_4835dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.-166_-156dup	ENSP00000434898.2:n.-166_-156dup
ENST00000528762.2:c.-166_-156dup	ENSP00000433168.2:n.-166_-156dup
ENST00000530893.7:c.-531_-521dup	ENSP00000499438.2:n.-531_-521dup
ENST00000665585.2:c.-166_-156dup	ENSP00000499570.2:n.-166_-156dup
ENST00000666593.2:c.-166_-156dup	ENSP00000499256.2:n.-166_-156dup
ENST00000700202.2:c.-166_-156dup	ENSP00000514856.2:n.-166_-156dup
ENST00000380152.8:c.-166_-156dup MANE Select	ENSP00000369497.3:n.-166_-156dup
ENST00000544455.6:c.-40+396_-40+406dup	ENSP00000439902.1:n.-40+396_-40+406dup
ENST00000380152.7:c.-166_-156dup	ENSP00000369497.3:n.-166_-156dup
ENST00000530893.6:n.37_47dup
ENST00000544455.5:c.-166_-156dup	ENSP00000439902.1:n.-166_-156dup
NM_000059.3:c.-166_-156dup , LRG_293t1:c.-166_-156dup	NP_000050.2:n.-166_-156dup
XM_011535203.1:c.-40+396_-40+406dup	XP_011533505.1:n.-40+396_-40+406dup
XM_011535204.1:c.-166_-156dup	XP_011533506.1:n.-166_-156dup
XM_011535205.1:c.-166_-156dup	XP_011533507.1:n.-166_-156dup
NM_000059.4:c.-166_-156dup MANE Select	NP_000050.3:n.-166_-156dup