Canonical Allele Identifier: CA013167

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51190
• ClinVar RCV Id: RCV000043880 ; RCV000112966 ; RCV000160268 ; RCV000213388 ; RCV001310171 ; RCV003460563
• dbSNP Id: rs80359304
• gnomAD v4: 13-32333245-GTTTA-G
• MyVariant Identifiers: chr13:g.32907388_32907391del (hg19) ; chr13:g.32333251_32333254del (hg38)
• PubMed: PMID:12942367 ; PMID:18393245 ; PMID:18627636 ; PMID:22923021 ; PMID:24123850 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32333251_32333254del , CM000675.2:g.32333251_32333254del	GRCh38
NC_000013.10:g.32907388_32907391del , CM000675.1:g.32907388_32907391del	GRCh37
NC_000013.9:g.31805388_31805391del	NCBI36
NG_012772.3:g.22772_22775del , LRG_293:g.22772_22775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.1773_1776del	ENSP00000434898.2:p.Ile591MetfsTer22
ENST00000528762.2:c.1773_1776del	ENSP00000433168.2:p.Ile591MetfsTer22
ENST00000530893.7:c.1404_1407del	ENSP00000499438.2:p.Ile468MetfsTer22
ENST00000665585.2:c.1773_1776del	ENSP00000499570.2:p.Ile591MetfsTer22
ENST00000666593.2:c.1773_1776del	ENSP00000499256.2:p.Ile591MetfsTer22
ENST00000700202.2:c.1773_1776del	ENSP00000514856.2:p.Ile591MetfsTer22
ENST00000700201.1:c.*1552_*1555del	ENSP00000514855.1:n.*1552_*1555del
ENST00000380152.8:c.1773_1776del MANE Select	ENSP00000369497.3:p.Ile591MetfsTer22
ENST00000544455.6:c.1773_1776del	ENSP00000439902.1:p.Ile591MetfsTer22
ENST00000614259.2:c.1773_1776del	ENSP00000506251.1:p.Ile591MetfsTer22
ENST00000680887.1:c.1773_1776del	ENSP00000505508.1:p.Ile591MetfsTer22
ENST00000380152.7:c.1773_1776del	ENSP00000369497.3:p.Ile591MetfsTer22
ENST00000530893.6:n.1971_1974del
ENST00000544455.5:c.1773_1776del	ENSP00000439902.1:p.Ile591MetfsTer22
ENST00000614259.1:n.1773_1776del
NM_000059.3:c.1773_1776del , LRG_293t1:c.1773_1776del	NP_000050.2:p.Ile591MetfsTer22
XM_011535203.1:c.1773_1776del	XP_011533505.1:p.Ile591MetfsTer22
XM_011535204.1:c.1773_1776del	XP_011533506.1:p.Ile591MetfsTer22
XM_011535205.1:c.1773_1776del	XP_011533507.1:p.Ile591MetfsTer22
NM_000059.4:c.1773_1776del MANE Select	NP_000050.3:p.Ile591MetfsTer22