Canonical Allele Identifier: CA020654

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51698
• ClinVar RCV Id: RCV000077335 ; RCV000509481 ; RCV000496533 ; RCV000565817 ; RCV003473346 ; RCV004542697
• dbSNP Id: rs397507739
• gnomAD v4: 13-32326143-TAA-T
• MyVariant Identifiers: chr13:g.32900281_32900282del (hg19) ; chr13:g.32326144_32326145del (hg38)
• PubMed: PMID:12491499 ; PMID:19949876 ; PMID:20104584 ; PMID:21553119 ; PMID:26833046 ; PMID:27084275

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326144_32326145del , CM000675.2:g.32326144_32326145del	GRCh38
NC_000013.10:g.32900281_32900282del , CM000675.1:g.32900281_32900282del	GRCh37
NC_000013.9:g.31798281_31798282del	NCBI36
NG_012772.3:g.15665_15666del , LRG_293:g.15665_15666del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.469_470del	ENSP00000434898.2:p.Lys157ValfsTer25
ENST00000528762.2:c.469_470del	ENSP00000433168.2:p.Lys157ValfsTer25
ENST00000530893.7:c.100_101del	ENSP00000499438.2:p.Lys34ValfsTer25
ENST00000665585.2:c.469_470del	ENSP00000499570.2:p.Lys157ValfsTer25
ENST00000666593.2:c.469_470del	ENSP00000499256.2:p.Lys157ValfsTer25
ENST00000700202.2:c.469_470del	ENSP00000514856.2:p.Lys157ValfsTer25
ENST00000700200.1:n.340_341del
ENST00000700201.1:c.*248_*249del	ENSP00000514855.1:n.*248_*249del
ENST00000380152.8:c.469_470del MANE Select	ENSP00000369497.3:p.Lys157ValfsTer25
ENST00000544455.6:c.469_470del	ENSP00000439902.1:p.Lys157ValfsTer25
ENST00000614259.2:c.469_470del	ENSP00000506251.1:p.Lys157ValfsTer25
ENST00000680887.1:c.469_470del	ENSP00000505508.1:p.Lys157ValfsTer25
ENST00000380152.7:c.469_470del	ENSP00000369497.3:p.Lys157ValfsTer25
ENST00000530893.6:n.667_668del
ENST00000544455.5:c.469_470del	ENSP00000439902.1:p.Lys157ValfsTer25
ENST00000614259.1:n.469_470del
NM_000059.3:c.469_470del , LRG_293t1:c.469_470del	NP_000050.2:p.Lys157ValfsTer25
XM_011535203.1:c.469_470del	XP_011533505.1:p.Lys157ValfsTer25
XM_011535204.1:c.469_470del	XP_011533506.1:p.Lys157ValfsTer25
XM_011535205.1:c.469_470del	XP_011533507.1:p.Lys157ValfsTer25
NM_000059.4:c.469_470del MANE Select	NP_000050.3:p.Lys157ValfsTer25