Canonical Allele Identifier: CA645509353

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 438975
• ClinVar RCV Id: RCV000508126 ; RCV000581674 ; RCV000868731 ; RCV001113448 ; RCV001113449
• dbSNP Id: rs1555279969
• gnomAD v3: 13-32315674-G-T
• gnomAD v4: 13-32315674-G-T
• MyVariant Identifiers: chr13:g.32889811G>T (hg19) ; chr13:g.32315674G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32315674G>T , CM000675.2:g.32315674G>T	GRCh38
NC_000013.10:g.32889811G>T , CM000675.1:g.32889811G>T	GRCh37
NC_000013.9:g.31787811G>T	NCBI36
NG_012772.3:g.5195G>T , LRG_293:g.5195G>T
NG_017006.1:g.1281C>A
NG_017006.2:g.4690C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.-40+7G>T	ENSP00000434898.2:n.-40+7G>T
ENST00000528762.2:c.-40+7G>T	ENSP00000433168.2:n.-40+7G>T
ENST00000530893.7:c.-405+7G>T	ENSP00000499438.2:n.-405+7G>T
ENST00000665585.2:c.-40+7G>T	ENSP00000499570.2:n.-40+7G>T
ENST00000666593.2:c.-40+7G>T	ENSP00000499256.2:n.-40+7G>T
ENST00000700202.2:c.-40+7G>T	ENSP00000514856.2:n.-40+7G>T
ENST00000700199.1:n.85+7G>T
ENST00000700200.1:n.85+7G>T
ENST00000700201.1:c.-40+7G>T	ENSP00000514855.1:n.-40+7G>T
ENST00000380152.8:c.-40+7G>T MANE Select	ENSP00000369497.3:n.-40+7G>T
ENST00000544455.6:c.-40+529G>T	ENSP00000439902.1:n.-40+529G>T
ENST00000380152.7:c.-40+7G>T	ENSP00000369497.3:n.-40+7G>T
ENST00000530893.6:n.163+7G>T
ENST00000544455.5:c.-40+7G>T	ENSP00000439902.1:n.-40+7G>T
NM_000059.3:c.-40+7G>T , LRG_293t1:c.-40+7G>T	NP_000050.2:n.-40+7G>T
XM_011535203.1:c.-40+529G>T	XP_011533505.1:n.-40+529G>T
XM_011535204.1:c.-40+7G>T	XP_011533506.1:n.-40+7G>T
XM_011535205.1:c.-40+7G>T	XP_011533507.1:n.-40+7G>T
NM_000059.4:c.-40+7G>T MANE Select	NP_000050.3:n.-40+7G>T