Canonical Allele Identifier: CA025937

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52732
• ClinVar RCV Id: RCV000045694 ; RCV000077458 ; RCV000130329 ; RCV000377237 ; RCV000505780 ; RCV001175463
• dbSNP Id: rs80359155
• gnomAD v3: 13-32379828-T-C
• gnomAD v4: 13-32379828-T-C
• MyVariant Identifiers: chr13:g.32953965T>C (hg19) ; chr13:g.32379828T>C (hg38)
• PubMed: PMID:10923033 ; PMID:19043619

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379828T>C , CM000675.2:g.32379828T>C	GRCh38
NC_000013.10:g.32953965T>C , CM000675.1:g.32953965T>C	GRCh37
NC_000013.9:g.31851965T>C	NCBI36
NG_012772.3:g.69349T>C , LRG_293:g.69349T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9032T>C	ENSP00000434898.2:p.Leu3011Pro
ENST00000528762.2:c.*399T>C	ENSP00000433168.2:n.*399T>C
ENST00000530893.7:c.8663T>C	ENSP00000499438.2:p.Leu2888Pro
ENST00000665585.2:c.*594T>C	ENSP00000499570.2:n.*594T>C
ENST00000666593.2:c.9032T>C	ENSP00000499256.2:p.Leu3011Pro
ENST00000700202.2:c.8981T>C	ENSP00000514856.2:p.Leu2994Pro
ENST00000700202.1:c.1448T>C	ENSP00000514856.1:p.Leu483Pro
ENST00000700203.1:n.1159T>C
ENST00000380152.8:c.9032T>C MANE Select	ENSP00000369497.3:p.Leu3011Pro
ENST00000544455.6:c.9032T>C	ENSP00000439902.1:p.Leu3011Pro
ENST00000614259.2:c.9040T>C	ENSP00000506251.1:n.9040T>C
ENST00000665585.1:c.1910T>C
ENST00000680887.1:c.9032T>C	ENSP00000505508.1:p.Leu3011Pro
ENST00000380152.7:c.9032T>C	ENSP00000369497.3:p.Leu3011Pro
ENST00000544455.5:c.9032T>C	ENSP00000439902.1:p.Leu3011Pro
NM_000059.3:c.9032T>C , LRG_293t1:c.9032T>C	NP_000050.2:p.Leu3011Pro
XM_011535203.1:c.9032T>C	XP_011533505.1:p.Leu3011Pro
XM_011535204.1:c.8936T>C	XP_011533506.1:p.Leu2979Pro
XM_011535205.1:c.*70T>C	XP_011533507.1:n.*70T>C
NM_000059.4:c.9032T>C MANE Select	NP_000050.3:p.Leu3011Pro