Canonical Allele Identifier: CA954687830

Gene: BRCA2

Linked Data

• dbSNP Id: rs1003568804
• gnomAD v3: 13-32315747-C-G
• gnomAD v4: 13-32315747-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32315747C>G , CM000675.2:g.32315747C>G	GRCh38
NC_000013.10:g.32889884C>G , CM000675.1:g.32889884C>G	GRCh37
NC_000013.9:g.31787884C>G	NCBI36
NG_012772.3:g.5268C>G , LRG_293:g.5268C>G
NG_017006.1:g.1208G>C
NG_017006.2:g.4617G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.-40+80C>G	ENSP00000434898.2:n.-40+80C>G
ENST00000528762.2:c.-40+80C>G	ENSP00000433168.2:n.-40+80C>G
ENST00000530893.7:c.-405+80C>G	ENSP00000499438.2:n.-405+80C>G
ENST00000665585.2:c.-40+80C>G	ENSP00000499570.2:n.-40+80C>G
ENST00000666593.2:c.-40+80C>G	ENSP00000499256.2:n.-40+80C>G
ENST00000700202.2:c.-40+80C>G	ENSP00000514856.2:n.-40+80C>G
ENST00000700199.1:n.85+80C>G
ENST00000700200.1:n.85+80C>G
ENST00000700201.1:c.-40+80C>G	ENSP00000514855.1:n.-40+80C>G
ENST00000380152.8:c.-40+80C>G MANE Select	ENSP00000369497.3:n.-40+80C>G
ENST00000544455.6:c.-40+602C>G	ENSP00000439902.1:n.-40+602C>G
ENST00000380152.7:c.-40+80C>G	ENSP00000369497.3:n.-40+80C>G
ENST00000530893.6:n.163+80C>G
ENST00000544455.5:c.-40+80C>G	ENSP00000439902.1:n.-40+80C>G
NM_000059.3:c.-40+80C>G , LRG_293t1:c.-40+80C>G	NP_000050.2:n.-40+80C>G
XM_011535203.1:c.-40+602C>G	XP_011533505.1:n.-40+602C>G
XM_011535204.1:c.-40+80C>G	XP_011533506.1:n.-40+80C>G
XM_011535205.1:c.-40+80C>G	XP_011533507.1:n.-40+80C>G
NM_000059.4:c.-40+80C>G MANE Select	NP_000050.3:n.-40+80C>G