Canonical Allele Identifier: CA026049

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52783
• ClinVar RCV Id: RCV000256545 ; RCV001019066 ; RCV001380998
• dbSNP Id: rs80359190
• MyVariant Identifiers: chr13:g.32954273A>T (hg19) ; chr13:g.32380136A>T (hg38)
• PubMed: PMID:12655567

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380136A>T , CM000675.2:g.32380136A>T	GRCh38
NC_000013.10:g.32954273A>T , CM000675.1:g.32954273A>T	GRCh37
NC_000013.9:g.31852273A>T	NCBI36
NG_012772.3:g.69657A>T , LRG_293:g.69657A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9247A>T	ENSP00000434898.2:p.Lys3083Ter
ENST00000528762.2:c.*614A>T	ENSP00000433168.2:n.*614A>T
ENST00000530893.7:c.8878A>T	ENSP00000499438.2:p.Lys2960Ter
ENST00000665585.2:c.*809A>T	ENSP00000499570.2:n.*809A>T
ENST00000666593.2:c.9247A>T	ENSP00000499256.2:p.Lys3083Ter
ENST00000700202.2:c.9196A>T	ENSP00000514856.2:p.Lys3066Ter
ENST00000700202.1:c.1663A>T	ENSP00000514856.1:p.Lys555Ter
ENST00000700203.1:n.1374A>T
ENST00000380152.8:c.9247A>T MANE Select	ENSP00000369497.3:p.Lys3083Ter
ENST00000544455.6:c.9247A>T	ENSP00000439902.1:p.Lys3083Ter
ENST00000614259.2:c.9255A>T	ENSP00000506251.1:n.9255A>T
ENST00000665585.1:c.2125A>T
ENST00000666593.1:c.130A>T	ENSP00000499256.1:p.Lys44Ter
ENST00000680887.1:c.9247A>T	ENSP00000505508.1:p.Lys3083Ter
ENST00000380152.7:c.9247A>T	ENSP00000369497.3:p.Lys3083Ter
ENST00000470094.1:c.204A>T
ENST00000544455.5:c.9247A>T	ENSP00000439902.1:p.Lys3083Ter
NM_000059.3:c.9247A>T , LRG_293t1:c.9247A>T	NP_000050.2:p.Lys3083Ter
XM_011535203.1:c.9247A>T	XP_011533505.1:p.Lys3083Ter
XM_011535204.1:c.9151A>T	XP_011533506.1:p.Lys3051Ter
NM_000059.4:c.9247A>T MANE Select	NP_000050.3:p.Lys3083Ter