Canonical Allele Identifier: CA387768086

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 462219
• ClinVar RCV Id: RCV000587368 ; RCV000775705 ; RCV001479993
• dbSNP Id: rs1555290049
• gnomAD v4: 13-32398640-C-G
• COSMIC: COSM6074228 ; COSM6074229
• MyVariant Identifiers: chr13:g.32972777C>G (hg19) ; chr13:g.32398640C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398640C>G , CM000675.2:g.32398640C>G	GRCh38
NC_000013.10:g.32972777C>G , CM000675.1:g.32972777C>G	GRCh37
NC_000013.9:g.31870777C>G	NCBI36
NG_012772.3:g.88161C>G , LRG_293:g.88161C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*650C>G	ENSP00000434898.2:n.*650C>G
ENST00000528762.2:c.*1494C>G	ENSP00000433168.2:n.*1494C>G
ENST00000530893.7:c.9758C>G	ENSP00000499438.2:p.Ser3253Ter
ENST00000665585.2:c.*1689C>G	ENSP00000499570.2:n.*1689C>G
ENST00000700202.2:c.10076C>G	ENSP00000514856.2:p.Ser3359Ter
ENST00000700202.1:c.2543C>G	ENSP00000514856.1:p.Ser848Ter
ENST00000700203.1:n.2254C>G
ENST00000380152.8:c.10127C>G MANE Select	ENSP00000369497.3:p.Ser3376Ter
ENST00000544455.6:c.10127C>G	ENSP00000439902.1:p.Ser3376Ter
ENST00000614259.2:c.10135C>G	ENSP00000506251.1:n.10135C>G
ENST00000680887.1:c.10127C>G	ENSP00000505508.1:p.Ser3376Ter
ENST00000380152.7:c.10127C>G	ENSP00000369497.3:p.Ser3376Ter
ENST00000544455.5:c.10127C>G	ENSP00000439902.1:p.Ser3376Ter
NM_000059.3:c.10127C>G , LRG_293t1:c.10127C>G	NP_000050.2:p.Ser3376Ter
XM_011535203.1:c.10127C>G	XP_011533505.1:p.Ser3376Ter
XM_011535204.1:c.10031C>G	XP_011533506.1:p.Ser3344Ter
NM_000059.4:c.10127C>G MANE Select	NP_000050.3:p.Ser3376Ter