Canonical Allele Identifier: CA026019

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52769
• ClinVar RCV Id: RCV000045739 ; RCV000162941 ; RCV000114061 ; RCV000505856 ; RCV003460629
• dbSNP Id: rs80359175
• MyVariant Identifiers: chr13:g.32954208T>A (hg19) ; chr13:g.32380071T>A (hg38)
• PubMed: PMID:10923033 ; PMID:28152038

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380071T>A , CM000675.2:g.32380071T>A	GRCh38
NC_000013.10:g.32954208T>A , CM000675.1:g.32954208T>A	GRCh37
NC_000013.9:g.31852208T>A	NCBI36
NG_012772.3:g.69592T>A , LRG_293:g.69592T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9182T>A	ENSP00000434898.2:p.Leu3061Ter
ENST00000528762.2:c.*549T>A	ENSP00000433168.2:n.*549T>A
ENST00000530893.7:c.8813T>A	ENSP00000499438.2:p.Leu2938Ter
ENST00000665585.2:c.*744T>A	ENSP00000499570.2:n.*744T>A
ENST00000666593.2:c.9182T>A	ENSP00000499256.2:p.Leu3061Ter
ENST00000700202.2:c.9131T>A	ENSP00000514856.2:p.Leu3044Ter
ENST00000700202.1:c.1598T>A	ENSP00000514856.1:p.Leu533Ter
ENST00000700203.1:n.1309T>A
ENST00000380152.8:c.9182T>A MANE Select	ENSP00000369497.3:p.Leu3061Ter
ENST00000544455.6:c.9182T>A	ENSP00000439902.1:p.Leu3061Ter
ENST00000614259.2:c.9190T>A	ENSP00000506251.1:n.9190T>A
ENST00000665585.1:c.2060T>A
ENST00000666593.1:c.65T>A	ENSP00000499256.1:p.Leu22Ter
ENST00000680887.1:c.9182T>A	ENSP00000505508.1:p.Leu3061Ter
ENST00000380152.7:c.9182T>A	ENSP00000369497.3:p.Leu3061Ter
ENST00000470094.1:c.139T>A
ENST00000544455.5:c.9182T>A	ENSP00000439902.1:p.Leu3061Ter
NM_000059.3:c.9182T>A , LRG_293t1:c.9182T>A	NP_000050.2:p.Leu3061Ter
XM_011535203.1:c.9182T>A	XP_011533505.1:p.Leu3061Ter
XM_011535204.1:c.9086T>A	XP_011533506.1:p.Leu3029Ter
NM_000059.4:c.9182T>A MANE Select	NP_000050.3:p.Leu3061Ter