Canonical Allele Identifier: CA026033

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52776
• ClinVar RCV Id: RCV000114065 ; RCV004018939 ; RCV002514215
• dbSNP Id: rs80359183
• MyVariant Identifiers: chr13:g.32954233T>A (hg19) ; chr13:g.32380096T>A (hg38)
• PubMed: PMID:14559878

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380096T>A , CM000675.2:g.32380096T>A	GRCh38
NC_000013.10:g.32954233T>A , CM000675.1:g.32954233T>A	GRCh37
NC_000013.9:g.31852233T>A	NCBI36
NG_012772.3:g.69617T>A , LRG_293:g.69617T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9207T>A	ENSP00000434898.2:p.Cys3069Ter
ENST00000528762.2:c.*574T>A	ENSP00000433168.2:n.*574T>A
ENST00000530893.7:c.8838T>A	ENSP00000499438.2:p.Cys2946Ter
ENST00000665585.2:c.*769T>A	ENSP00000499570.2:n.*769T>A
ENST00000666593.2:c.9207T>A	ENSP00000499256.2:p.Cys3069Ter
ENST00000700202.2:c.9156T>A	ENSP00000514856.2:p.Cys3052Ter
ENST00000700202.1:c.1623T>A	ENSP00000514856.1:p.Cys541Ter
ENST00000700203.1:n.1334T>A
ENST00000380152.8:c.9207T>A MANE Select	ENSP00000369497.3:p.Cys3069Ter
ENST00000544455.6:c.9207T>A	ENSP00000439902.1:p.Cys3069Ter
ENST00000614259.2:c.9215T>A	ENSP00000506251.1:n.9215T>A
ENST00000665585.1:c.2085T>A
ENST00000666593.1:c.90T>A	ENSP00000499256.1:p.Cys30Ter
ENST00000680887.1:c.9207T>A	ENSP00000505508.1:p.Cys3069Ter
ENST00000380152.7:c.9207T>A	ENSP00000369497.3:p.Cys3069Ter
ENST00000470094.1:c.164T>A
ENST00000544455.5:c.9207T>A	ENSP00000439902.1:p.Cys3069Ter
NM_000059.3:c.9207T>A , LRG_293t1:c.9207T>A	NP_000050.2:p.Cys3069Ter
XM_011535203.1:c.9207T>A	XP_011533505.1:p.Cys3069Ter
XM_011535204.1:c.9111T>A	XP_011533506.1:p.Cys3037Ter
NM_000059.4:c.9207T>A MANE Select	NP_000050.3:p.Cys3069Ter