Canonical Allele Identifier: CA025987

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38213
• ClinVar RCV Id: RCV000031796 ; RCV000130896 ; RCV000213291 ; RCV003492320 ; RCV000707640
• dbSNP Id: rs80359167
• ExAC: 13:32954049 C / G
• gnomAD v2: 13-32954049-C-G
• gnomAD v3: 13-32379912-C-G
• gnomAD v4: 13-32379912-C-G
• MyVariant Identifiers: chr13:g.32954049C>G (hg19) ; chr13:g.32379912C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379912C>G , CM000675.2:g.32379912C>G	GRCh38
NC_000013.10:g.32954049C>G , CM000675.1:g.32954049C>G	GRCh37
NC_000013.9:g.31852049C>G	NCBI36
NG_012772.3:g.69433C>G , LRG_293:g.69433C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9116C>G	ENSP00000434898.2:p.Pro3039Arg
ENST00000528762.2:c.*483C>G	ENSP00000433168.2:n.*483C>G
ENST00000530893.7:c.8747C>G	ENSP00000499438.2:p.Pro2916Arg
ENST00000665585.2:c.*678C>G	ENSP00000499570.2:n.*678C>G
ENST00000666593.2:c.9116C>G	ENSP00000499256.2:p.Pro3039Arg
ENST00000700202.2:c.9065C>G	ENSP00000514856.2:p.Pro3022Arg
ENST00000700202.1:c.1532C>G	ENSP00000514856.1:p.Pro511Arg
ENST00000700203.1:n.1243C>G
ENST00000380152.8:c.9116C>G MANE Select	ENSP00000369497.3:p.Pro3039Arg
ENST00000544455.6:c.9116C>G	ENSP00000439902.1:p.Pro3039Arg
ENST00000614259.2:c.9124C>G	ENSP00000506251.1:n.9124C>G
ENST00000665585.1:c.1994C>G
ENST00000680887.1:c.9116C>G	ENSP00000505508.1:p.Pro3039Arg
ENST00000380152.7:c.9116C>G	ENSP00000369497.3:p.Pro3039Arg
ENST00000470094.1:c.73C>G
ENST00000544455.5:c.9116C>G	ENSP00000439902.1:p.Pro3039Arg
NM_000059.3:c.9116C>G , LRG_293t1:c.9116C>G	NP_000050.2:p.Pro3039Arg
XM_011535203.1:c.9116C>G	XP_011533505.1:p.Pro3039Arg
XM_011535204.1:c.9020C>G	XP_011533506.1:p.Pro3007Arg
NM_000059.4:c.9116C>G MANE Select	NP_000050.3:p.Pro3039Arg