Canonical Allele Identifier: CA025758

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52649
• ClinVar RCV Id: RCV000577743 ; RCV000661655
• dbSNP Id: rs397508001
• MyVariant Identifiers: chr13:g.32950820_32950823del (hg19) ; chr13:g.32376683_32376686del (hg38)
• PubMed: PMID:15876480

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376683_32376686del , CM000675.2:g.32376683_32376686del	GRCh38
NC_000013.10:g.32950820_32950823del , CM000675.1:g.32950820_32950823del	GRCh37
NC_000013.9:g.31848820_31848823del	NCBI36
NG_012772.3:g.66204_66207del , LRG_293:g.66204_66207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8646_8649del	ENSP00000434898.2:p.Lys2882AsnfsTer8
ENST00000528762.2:c.*13_*16del	ENSP00000433168.2:n.*13_*16del
ENST00000530893.7:c.8277_8280del	ENSP00000499438.2:p.Lys2759AsnfsTer8
ENST00000665585.2:c.*208_*211del	ENSP00000499570.2:n.*208_*211del
ENST00000666593.2:c.8646_8649del	ENSP00000499256.2:p.Lys2882AsnfsTer8
ENST00000700202.2:c.8646_8649del	ENSP00000514856.2:p.Lys2882AsnfsTer8
ENST00000700202.1:c.1113_1116del	ENSP00000514856.1:p.Lys371AsnfsTer8
ENST00000700203.1:n.773_776del
ENST00000380152.8:c.8646_8649del MANE Select	ENSP00000369497.3:p.Lys2882AsnfsTer8
ENST00000544455.6:c.8646_8649del	ENSP00000439902.1:p.Lys2882AsnfsTer8
ENST00000614259.2:c.8654_8657del	ENSP00000506251.1:n.8654_8657del
ENST00000665585.1:c.1524_1527del
ENST00000680887.1:c.8646_8649del	ENSP00000505508.1:p.Lys2882AsnfsTer8
ENST00000380152.7:c.8646_8649del	ENSP00000369497.3:p.Lys2882AsnfsTer8
ENST00000528762.1:c.208_211del	ENSP00000433168.1:n.208_211del
ENST00000544455.5:c.8646_8649del	ENSP00000439902.1:p.Lys2882AsnfsTer8
NM_000059.3:c.8646_8649del , LRG_293t1:c.8646_8649del	NP_000050.2:p.Lys2882AsnfsTer8
XM_011535203.1:c.8646_8649del	XP_011533505.1:p.Lys2882AsnfsTer8
XM_011535204.1:c.8550_8553del	XP_011533506.1:p.Lys2850AsnfsTer8
XM_011535205.1:c.8646_8649del	XP_011533507.1:p.Lys2882AsnfsTer8
NM_000059.4:c.8646_8649del MANE Select	NP_000050.3:p.Lys2882AsnfsTer8