Canonical Allele Identifier: CA012870

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51170
• ClinVar RCV Id: RCV000112952 ; RCV000217402 ; RCV000212212 ; RCV000496933 ; RCV003473307
• dbSNP Id: rs80358452
• gnomAD v4: 13-32333148-T-G
• MyVariant Identifiers: chr13:g.32907285T>G (hg19) ; chr13:g.32333148T>G (hg38)
• PubMed: PMID:14985394 ; PMID:16683254 ; PMID:17445839 ; PMID:26681312

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32333148T>G , CM000675.2:g.32333148T>G	GRCh38
NC_000013.10:g.32907285T>G , CM000675.1:g.32907285T>G	GRCh37
NC_000013.9:g.31805285T>G	NCBI36
NG_012772.3:g.22669T>G , LRG_293:g.22669T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.1670T>G	ENSP00000434898.2:p.Leu557Ter
ENST00000528762.2:c.1670T>G	ENSP00000433168.2:p.Leu557Ter
ENST00000530893.7:c.1301T>G	ENSP00000499438.2:p.Leu434Ter
ENST00000665585.2:c.1670T>G	ENSP00000499570.2:p.Leu557Ter
ENST00000666593.2:c.1670T>G	ENSP00000499256.2:p.Leu557Ter
ENST00000700202.2:c.1670T>G	ENSP00000514856.2:p.Leu557Ter
ENST00000700201.1:c.*1449T>G	ENSP00000514855.1:n.*1449T>G
ENST00000380152.8:c.1670T>G MANE Select	ENSP00000369497.3:p.Leu557Ter
ENST00000544455.6:c.1670T>G	ENSP00000439902.1:p.Leu557Ter
ENST00000614259.2:c.1670T>G	ENSP00000506251.1:p.Leu557Ter
ENST00000680887.1:c.1670T>G	ENSP00000505508.1:p.Leu557Ter
ENST00000380152.7:c.1670T>G	ENSP00000369497.3:p.Leu557Ter
ENST00000530893.6:n.1868T>G
ENST00000544455.5:c.1670T>G	ENSP00000439902.1:p.Leu557Ter
ENST00000614259.1:n.1670T>G
NM_000059.3:c.1670T>G , LRG_293t1:c.1670T>G	NP_000050.2:p.Leu557Ter
XM_011535203.1:c.1670T>G	XP_011533505.1:p.Leu557Ter
XM_011535204.1:c.1670T>G	XP_011533506.1:p.Leu557Ter
XM_011535205.1:c.1670T>G	XP_011533507.1:p.Leu557Ter
NM_000059.4:c.1670T>G MANE Select	NP_000050.3:p.Leu557Ter