Canonical Allele Identifier: CA024064

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52105
• ClinVar RCV Id: RCV000113591 ; RCV000590435 ; RCV000484644 ; RCV001271046
• dbSNP Id: rs80359594
• MyVariant Identifiers: chr13:g.32914941_32914942del (hg19) ; chr13:g.32340804_32340805del (hg38)
• PubMed: PMID:15024741 ; PMID:18489799 ; PMID:25863477

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340804_32340805del , CM000675.2:g.32340804_32340805del	GRCh38
NC_000013.10:g.32914941_32914942del , CM000675.1:g.32914941_32914942del	GRCh37
NC_000013.9:g.31812941_31812942del	NCBI36
NG_012772.3:g.30325_30326del , LRG_293:g.30325_30326del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.6449_6450del	ENSP00000434898.2:p.Lys2150SerfsTer25
ENST00000528762.2:c.6449_6450del	ENSP00000433168.2:p.Lys2150SerfsTer25
ENST00000530893.7:c.6080_6081del	ENSP00000499438.2:p.Lys2027SerfsTer25
ENST00000665585.2:c.6449_6450del	ENSP00000499570.2:p.Lys2150SerfsTer25
ENST00000666593.2:c.6449_6450del	ENSP00000499256.2:p.Lys2150SerfsTer25
ENST00000700202.2:c.6449_6450del	ENSP00000514856.2:p.Lys2150SerfsTer25
ENST00000380152.8:c.6449_6450del MANE Select	ENSP00000369497.3:p.Lys2150SerfsTer25
ENST00000544455.6:c.6449_6450del	ENSP00000439902.1:p.Lys2150SerfsTer25
ENST00000614259.2:c.6449_6450del	ENSP00000506251.1:p.Lys2150SerfsTer25
ENST00000680887.1:c.6449_6450del	ENSP00000505508.1:p.Lys2150SerfsTer25
ENST00000380152.7:c.6449_6450del	ENSP00000369497.3:p.Lys2150SerfsTer25
ENST00000544455.5:c.6449_6450del	ENSP00000439902.1:p.Lys2150SerfsTer25
ENST00000614259.1:n.6449_6450del
NM_000059.3:c.6449_6450del , LRG_293t1:c.6449_6450del	NP_000050.2:p.Lys2150SerfsTer25
XM_011535203.1:c.6449_6450del	XP_011533505.1:p.Lys2150SerfsTer25
XM_011535204.1:c.6449_6450del	XP_011533506.1:p.Lys2150SerfsTer25
XM_011535205.1:c.6449_6450del	XP_011533507.1:p.Lys2150SerfsTer25
NM_000059.4:c.6449_6450del MANE Select	NP_000050.3:p.Lys2150SerfsTer25