Canonical Allele Identifier: CA025328

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38126
• ClinVar RCV Id: RCV000031708 ; RCV000131090 ; RCV000212264 ; RCV000496275 ; RCV000585650 ; RCV001271060
• dbSNP Id: rs80359686
• gnomAD v4: 13-32362626-GCCTTT-G
• MyVariant Identifiers: chr13:g.32936767_32936771del (hg19) ; chr13:g.32936764_32936768del (hg19) ; chr13:g.32362630_32362634del (hg38) ; chr13:g.32362627_32362631del (hg38)
• PubMed: PMID:8988179 ; PMID:9667259 ; PMID:18489799 ; PMID:20383589 ; PMID:22729890 ; PMID:26295337 ; PMID:26843898

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362630_32362634del , CM000675.2:g.32362630_32362634del	GRCh38
NC_000013.10:g.32936767_32936771del , CM000675.1:g.32936767_32936771del	GRCh37
NC_000013.9:g.31834767_31834771del	NCBI36
NG_012772.3:g.52151_52155del , LRG_293:g.52151_52155del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7913_7917del	ENSP00000434898.2:p.Phe2638Ter
ENST00000528762.2:c.7913_7917del	ENSP00000433168.2:p.Phe2638Ter
ENST00000530893.7:c.7544_7548del	ENSP00000499438.2:p.Phe2515Ter
ENST00000665585.2:c.7913_7917del	ENSP00000499570.2:p.Phe2638Ter
ENST00000666593.2:c.7913_7917del	ENSP00000499256.2:p.Phe2638Ter
ENST00000700202.2:c.7913_7917del	ENSP00000514856.2:p.Phe2638Ter
ENST00000700202.1:c.380_384del	ENSP00000514856.1:p.Phe127Ter
ENST00000380152.8:c.7913_7917del MANE Select	ENSP00000369497.3:p.Phe2638Ter
ENST00000544455.6:c.7913_7917del	ENSP00000439902.1:p.Phe2638Ter
ENST00000614259.2:c.7921_7925del	ENSP00000506251.1:p.Phe2641LysfsTer?
ENST00000665585.1:c.478_482del
ENST00000680887.1:c.7913_7917del	ENSP00000505508.1:p.Phe2638Ter
ENST00000380152.7:c.7913_7917del	ENSP00000369497.3:p.Phe2638Ter
ENST00000544455.5:c.7913_7917del	ENSP00000439902.1:p.Phe2638Ter
ENST00000614259.1:n.7921_7925del
NM_000059.3:c.7913_7917del , LRG_293t1:c.7913_7917del	NP_000050.2:p.Phe2638Ter
XM_011535203.1:c.7913_7917del	XP_011533505.1:p.Phe2638Ter
XM_011535204.1:c.7817_7821del	XP_011533506.1:p.Phe2606Ter
XM_011535205.1:c.7913_7917del	XP_011533507.1:p.Phe2638Ter
NM_000059.4:c.7913_7917del MANE Select	NP_000050.3:p.Phe2638Ter