Canonical Allele Identifier: CA10588062

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 264878
• ClinVar RCV Id: RCV000255460 ; RCV000397047 ; RCV000342004 ; RCV000504262
• dbSNP Id: rs545321666
• gnomAD v2: 13-32889782-AAAG-A
• gnomAD v3: 13-32315645-AAAG-A
• gnomAD v4: 13-32315645-AAAG-A
• MyVariant Identifiers: chr13:g.32889785_32889787del (hg19) ; chr13:g.32889783_32889785del (hg19) ; chr13:g.32315648_32315650del (hg38) ; chr13:g.32315646_32315648del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32315648_32315650del , CM000675.2:g.32315648_32315650del	GRCh38
NC_000013.10:g.32889785_32889787del , CM000675.1:g.32889785_32889787del	GRCh37
NC_000013.9:g.31787785_31787787del	NCBI36
NG_012772.3:g.5169_5171del , LRG_293:g.5169_5171del
NG_017006.1:g.1307_1309del
NG_017006.2:g.4716_4718del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.-59_-57del	ENSP00000434898.2:n.-59_-57del
ENST00000528762.2:c.-59_-57del	ENSP00000433168.2:n.-59_-57del
ENST00000530893.7:c.-424_-422del	ENSP00000499438.2:n.-424_-422del
ENST00000665585.2:c.-59_-57del	ENSP00000499570.2:n.-59_-57del
ENST00000666593.2:c.-59_-57del	ENSP00000499256.2:n.-59_-57del
ENST00000700202.2:c.-59_-57del	ENSP00000514856.2:n.-59_-57del
ENST00000700199.1:n.66_68del
ENST00000700200.1:n.66_68del
ENST00000700201.1:c.-59_-57del	ENSP00000514855.1:n.-59_-57del
ENST00000380152.8:c.-59_-57del MANE Select	ENSP00000369497.3:n.-59_-57del
ENST00000544455.6:c.-40+503_-40+505del	ENSP00000439902.1:n.-40+503_-40+505del
ENST00000380152.7:c.-59_-57del	ENSP00000369497.3:n.-59_-57del
ENST00000530893.6:n.144_146del
ENST00000544455.5:c.-59_-57del	ENSP00000439902.1:n.-59_-57del
NM_000059.3:c.-59_-57del , LRG_293t1:c.-59_-57del	NP_000050.2:n.-59_-57del
XM_011535203.1:c.-40+503_-40+505del	XP_011533505.1:n.-40+503_-40+505del
XM_011535204.1:c.-59_-57del	XP_011533506.1:n.-59_-57del
XM_011535205.1:c.-59_-57del	XP_011533507.1:n.-59_-57del
NM_000059.4:c.-59_-57del MANE Select	NP_000050.3:n.-59_-57del