Canonical Allele Identifier: CA020691

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51701
• ClinVar RCV Id: RCV000077336 ; RCV000131856 ; RCV000496831 ; RCV002293415
• dbSNP Id: rs80359463
• gnomAD v4: 13-32326143-TAAGTC-T
• MyVariant Identifiers: chr13:g.32900282_32900286del (hg19) ; chr13:g.32326145_32326149del (hg38)
• PubMed: PMID:17851763 ; PMID:20215541 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326145_32326149del , CM000675.2:g.32326145_32326149del	GRCh38
NC_000013.10:g.32900282_32900286del , CM000675.1:g.32900282_32900286del	GRCh37
NC_000013.9:g.31798282_31798286del	NCBI36
NG_012772.3:g.15666_15670del , LRG_293:g.15666_15670del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.470_474del	ENSP00000434898.2:p.Lys157SerfsTer24
ENST00000528762.2:c.470_474del	ENSP00000433168.2:p.Lys157SerfsTer24
ENST00000530893.7:c.101_105del	ENSP00000499438.2:p.Lys34SerfsTer24
ENST00000665585.2:c.470_474del	ENSP00000499570.2:p.Lys157SerfsTer24
ENST00000666593.2:c.470_474del	ENSP00000499256.2:p.Lys157SerfsTer24
ENST00000700202.2:c.470_474del	ENSP00000514856.2:p.Lys157SerfsTer24
ENST00000700200.1:n.341_345del
ENST00000700201.1:c.*249_*253del	ENSP00000514855.1:n.*249_*253del
ENST00000380152.8:c.470_474del MANE Select	ENSP00000369497.3:p.Lys157SerfsTer24
ENST00000544455.6:c.470_474del	ENSP00000439902.1:p.Lys157SerfsTer24
ENST00000614259.2:c.470_474del	ENSP00000506251.1:p.Lys157SerfsTer24
ENST00000680887.1:c.470_474del	ENSP00000505508.1:p.Lys157SerfsTer24
ENST00000380152.7:c.470_474del	ENSP00000369497.3:p.Lys157SerfsTer24
ENST00000530893.6:n.668_672del
ENST00000544455.5:c.470_474del	ENSP00000439902.1:p.Lys157SerfsTer24
ENST00000614259.1:n.470_474del
NM_000059.3:c.470_474del , LRG_293t1:c.470_474del	NP_000050.2:p.Lys157SerfsTer24
XM_011535203.1:c.470_474del	XP_011533505.1:p.Lys157SerfsTer24
XM_011535204.1:c.470_474del	XP_011533506.1:p.Lys157SerfsTer24
XM_011535205.1:c.470_474del	XP_011533507.1:p.Lys157SerfsTer24
NM_000059.4:c.470_474del MANE Select	NP_000050.3:p.Lys157SerfsTer24