Canonical Allele Identifier: CA2499222051

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1132356
• ClinVar RCV Id: RCV001466540
• dbSNP Id: rs2137453124
• gnomAD v4: 13-32326624-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326624C>G , CM000675.2:g.32326624C>G	GRCh38
NC_000013.10:g.32900761C>G , CM000675.1:g.32900761C>G	GRCh37
NC_000013.9:g.31798761C>G	NCBI36
NG_012772.3:g.16145C>G , LRG_293:g.16145C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.631+11C>G	ENSP00000434898.2:n.631+11C>G
ENST00000528762.2:c.631+11C>G	ENSP00000433168.2:n.631+11C>G
ENST00000530893.7:c.262+11C>G	ENSP00000499438.2:n.262+11C>G
ENST00000665585.2:c.631+11C>G	ENSP00000499570.2:n.631+11C>G
ENST00000666593.2:c.631+11C>G	ENSP00000499256.2:n.631+11C>G
ENST00000700202.2:c.631+11C>G	ENSP00000514856.2:n.631+11C>G
ENST00000700200.1:n.513C>G
ENST00000700201.1:c.*410+11C>G	ENSP00000514855.1:n.*410+11C>G
ENST00000380152.8:c.631+11C>G MANE Select	ENSP00000369497.3:n.631+11C>G
ENST00000544455.6:c.631+11C>G	ENSP00000439902.1:n.631+11C>G
ENST00000614259.2:c.631+11C>G	ENSP00000506251.1:n.631+11C>G
ENST00000680887.1:c.631+11C>G	ENSP00000505508.1:n.631+11C>G
ENST00000380152.7:c.631+11C>G	ENSP00000369497.3:n.631+11C>G
ENST00000530893.6:n.829+11C>G
ENST00000544455.5:c.631+11C>G	ENSP00000439902.1:n.631+11C>G
ENST00000614259.1:n.631+11C>G
NM_000059.3:c.631+11C>G , LRG_293t1:c.631+11C>G	NP_000050.2:n.631+11C>G
XM_011535203.1:c.631+11C>G	XP_011533505.1:n.631+11C>G
XM_011535204.1:c.631+11C>G	XP_011533506.1:n.631+11C>G
XM_011535205.1:c.631+11C>G	XP_011533507.1:n.631+11C>G
NM_000059.4:c.631+11C>G MANE Select	NP_000050.3:n.631+11C>G