Canonical Allele Identifier: CA697323839

Gene: BRCA2

Linked Data

• dbSNP Id: rs1192353972
• gnomAD v3: 13-32315641-C-CA
• gnomAD v4: 13-32315641-C-CA
• MyVariant Identifiers: chr13:g.32889778_32889779insA (hg19) ; chr13:g.32315641_32315642insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32315647dup , CM000675.2:g.32315647dup	GRCh38
NC_000013.10:g.32889784dup , CM000675.1:g.32889784dup	GRCh37
NC_000013.9:g.31787784dup	NCBI36
NG_012772.3:g.5168dup , LRG_293:g.5168dup
NG_017006.1:g.1313dup
NG_017006.2:g.4722dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.-60dup	ENSP00000434898.2:n.-60dup
ENST00000528762.2:c.-60dup	ENSP00000433168.2:n.-60dup
ENST00000530893.7:c.-425dup	ENSP00000499438.2:n.-425dup
ENST00000665585.2:c.-60dup	ENSP00000499570.2:n.-60dup
ENST00000666593.2:c.-60dup	ENSP00000499256.2:n.-60dup
ENST00000700202.2:c.-60dup	ENSP00000514856.2:n.-60dup
ENST00000700199.1:n.65dup
ENST00000700200.1:n.65dup
ENST00000700201.1:c.-60dup	ENSP00000514855.1:n.-60dup
ENST00000380152.8:c.-60dup MANE Select	ENSP00000369497.3:n.-60dup
ENST00000544455.6:c.-40+502dup	ENSP00000439902.1:n.-40+502dup
ENST00000380152.7:c.-60dup	ENSP00000369497.3:n.-60dup
ENST00000530893.6:n.143dup
ENST00000544455.5:c.-60dup	ENSP00000439902.1:n.-60dup
NM_000059.3:c.-60dup , LRG_293t1:c.-60dup	NP_000050.2:n.-60dup
XM_011535203.1:c.-40+502dup	XP_011533505.1:n.-40+502dup
XM_011535204.1:c.-60dup	XP_011533506.1:n.-60dup
XM_011535205.1:c.-60dup	XP_011533507.1:n.-60dup
NM_000059.4:c.-60dup MANE Select	NP_000050.3:n.-60dup