Canonical Allele Identifier: CA023057

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 37993
• ClinVar RCV Id: RCV000031574 ; RCV000044741 ; RCV000131852 ; RCV000235138 ; RCV001355820 ; RCV002504845 ; RCV003473193
• dbSNP Id: rs80359533
• gnomAD v3: 13-32326553-GAT-G
• gnomAD v4: 13-32326553-GAT-G
• MyVariant Identifiers: chr13:g.32900693_32900694del (hg19) ; chr13:g.32900691_32900692del (hg19) ; chr13:g.32326556_32326557del (hg38) ; chr13:g.32326554_32326555del (hg38)
• PubMed: PMID:12672316 ; PMID:12960223 ; PMID:17899372 ; PMID:20215541 ; PMID:21913181 ; PMID:23983145 ; PMID:24094589 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326556_32326557del , CM000675.2:g.32326556_32326557del	GRCh38
NC_000013.10:g.32900693_32900694del , CM000675.1:g.32900693_32900694del	GRCh37
NC_000013.9:g.31798693_31798694del	NCBI36
NG_012772.3:g.16077_16078del , LRG_293:g.16077_16078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.574_575del	ENSP00000434898.2:p.Met192ValfsTer13
ENST00000528762.2:c.574_575del	ENSP00000433168.2:p.Met192ValfsTer13
ENST00000530893.7:c.205_206del	ENSP00000499438.2:p.Met69ValfsTer13
ENST00000665585.2:c.574_575del	ENSP00000499570.2:p.Met192ValfsTer13
ENST00000666593.2:c.574_575del	ENSP00000499256.2:p.Met192ValfsTer13
ENST00000700202.2:c.574_575del	ENSP00000514856.2:p.Met192ValfsTer13
ENST00000700200.1:n.445_446del
ENST00000700201.1:c.*353_*354del	ENSP00000514855.1:n.*353_*354del
ENST00000380152.8:c.574_575del MANE Select	ENSP00000369497.3:p.Met192ValfsTer13
ENST00000544455.6:c.574_575del	ENSP00000439902.1:p.Met192ValfsTer13
ENST00000614259.2:c.574_575del	ENSP00000506251.1:p.Met192ValfsTer13
ENST00000680887.1:c.574_575del	ENSP00000505508.1:p.Met192ValfsTer13
ENST00000380152.7:c.574_575del	ENSP00000369497.3:p.Met192ValfsTer13
ENST00000530893.6:n.772_773del
ENST00000544455.5:c.574_575del	ENSP00000439902.1:p.Met192ValfsTer13
ENST00000614259.1:n.574_575del
NM_000059.3:c.574_575del , LRG_293t1:c.574_575del	NP_000050.2:p.Met192ValfsTer13
XM_011535203.1:c.574_575del	XP_011533505.1:p.Met192ValfsTer13
XM_011535204.1:c.574_575del	XP_011533506.1:p.Met192ValfsTer13
XM_011535205.1:c.574_575del	XP_011533507.1:p.Met192ValfsTer13
NM_000059.4:c.574_575del MANE Select	NP_000050.3:p.Met192ValfsTer13