Canonical Allele Identifier: CA954700242

Gene: BRCA2

Linked Data

• dbSNP Id: rs2072912134
• gnomAD v3: 13-32379972-C-G
• gnomAD v4: 13-32379972-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379972C>G , CM000675.2:g.32379972C>G	GRCh38
NC_000013.10:g.32954109C>G , CM000675.1:g.32954109C>G	GRCh37
NC_000013.9:g.31852109C>G	NCBI36
NG_012772.3:g.69493C>G , LRG_293:g.69493C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9118-35C>G	ENSP00000434898.2:n.9118-35C>G
ENST00000528762.2:c.*485-35C>G	ENSP00000433168.2:n.*485-35C>G
ENST00000530893.7:c.8749-35C>G	ENSP00000499438.2:n.8749-35C>G
ENST00000665585.2:c.*680-35C>G	ENSP00000499570.2:n.*680-35C>G
ENST00000666593.2:c.9118-35C>G	ENSP00000499256.2:n.9118-35C>G
ENST00000700202.2:c.9067-35C>G	ENSP00000514856.2:n.9067-35C>G
ENST00000700202.1:c.1534-35C>G	ENSP00000514856.1:n.1534-35C>G
ENST00000700203.1:n.1245-35C>G
ENST00000380152.8:c.9118-35C>G MANE Select	ENSP00000369497.3:n.9118-35C>G
ENST00000544455.6:c.9118-35C>G	ENSP00000439902.1:n.9118-35C>G
ENST00000614259.2:c.9126-35C>G	ENSP00000506251.1:n.9126-35C>G
ENST00000665585.1:c.1996-35C>G
ENST00000680887.1:c.9118-35C>G	ENSP00000505508.1:n.9118-35C>G
ENST00000380152.7:c.9118-35C>G	ENSP00000369497.3:n.9118-35C>G
ENST00000470094.1:c.75-35C>G
ENST00000544455.5:c.9118-35C>G	ENSP00000439902.1:n.9118-35C>G
NM_000059.3:c.9118-35C>G , LRG_293t1:c.9118-35C>G	NP_000050.2:n.9118-35C>G
XM_011535203.1:c.9118-35C>G	XP_011533505.1:n.9118-35C>G
XM_011535204.1:c.9022-35C>G	XP_011533506.1:n.9022-35C>G
NM_000059.4:c.9118-35C>G MANE Select	NP_000050.3:n.9118-35C>G