Canonical Allele Identifier: CA025499

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 126168
• ClinVar RCV Id: RCV000113886 ; RCV000131217 ; RCV000456410 ; RCV003460792 ; RCV000586658
• dbSNP Id: rs80359066
• gnomAD v2: 13-32937527-G-C
• gnomAD v3: 13-32363390-G-C
• gnomAD v4: 13-32363390-G-C
• MyVariant Identifiers: chr13:g.32937527G>C (hg19) ; chr13:g.32363390G>C (hg38)
• PubMed: PMID:12228710 ; PMID:17027500 ; PMID:19043619 ; PMID:25186627 ; PMID:25282148

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363390G>C , CM000675.2:g.32363390G>C	GRCh38
NC_000013.10:g.32937527G>C , CM000675.1:g.32937527G>C	GRCh37
NC_000013.9:g.31835527G>C	NCBI36
NG_012772.3:g.52911G>C , LRG_293:g.52911G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8188G>C	ENSP00000434898.2:p.Ala2730Pro
ENST00000528762.2:c.8188G>C	ENSP00000433168.2:p.Ala2730Pro
ENST00000530893.7:c.7819G>C	ENSP00000499438.2:p.Ala2607Pro
ENST00000665585.2:c.8188G>C	ENSP00000499570.2:p.Ala2730Pro
ENST00000666593.2:c.8188G>C	ENSP00000499256.2:p.Ala2730Pro
ENST00000700202.2:c.8188G>C	ENSP00000514856.2:p.Ala2730Pro
ENST00000700202.1:c.655G>C	ENSP00000514856.1:p.Ala219Pro
ENST00000380152.8:c.8188G>C MANE Select	ENSP00000369497.3:p.Ala2730Pro
ENST00000544455.6:c.8188G>C	ENSP00000439902.1:p.Ala2730Pro
ENST00000614259.2:c.8196G>C	ENSP00000506251.1:n.8196G>C
ENST00000665585.1:c.753G>C
ENST00000680887.1:c.8188G>C	ENSP00000505508.1:p.Ala2730Pro
ENST00000380152.7:c.8188G>C	ENSP00000369497.3:p.Ala2730Pro
ENST00000544455.5:c.8188G>C	ENSP00000439902.1:p.Ala2730Pro
NM_000059.3:c.8188G>C , LRG_293t1:c.8188G>C	NP_000050.2:p.Ala2730Pro
XM_011535203.1:c.8188G>C	XP_011533505.1:p.Ala2730Pro
XM_011535204.1:c.8092G>C	XP_011533506.1:p.Ala2698Pro
XM_011535205.1:c.8188G>C	XP_011533507.1:p.Ala2730Pro
NM_000059.4:c.8188G>C MANE Select	NP_000050.3:p.Ala2730Pro