Canonical Allele Identifier: CA16606404

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 387446
• ClinVar RCV Id: RCV000441128 ; RCV001361386
• dbSNP Id: rs1057522793
• gnomAD v4: 13-32315647-A-G
• MyVariant Identifiers: chr13:g.32889784A>G (hg19) ; chr13:g.32315647A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32315647A>G , CM000675.2:g.32315647A>G	GRCh38
NC_000013.10:g.32889784A>G , CM000675.1:g.32889784A>G	GRCh37
NC_000013.9:g.31787784A>G	NCBI36
NG_012772.3:g.5168A>G , LRG_293:g.5168A>G
NG_017006.1:g.1308T>C
NG_017006.2:g.4717T>C

Transcript Alleles

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