Canonical Allele Identifier: CA019146

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 37715
• ClinVar RCV Id: RCV001354020 ; RCV001798037 ; RCV003934864
• dbSNP Id: rs276174798
• gnomAD v3: 13-32316406-GTCT-G
• gnomAD v4: 13-32316406-GTCT-G
• MyVariant Identifiers: chr13:g.32890547_32890549del (hg19) ; chr13:g.32890544_32890546del (hg19) ; chr13:g.32316410_32316412del (hg38) ; chr13:g.32316408_32316410del (hg38) ; chr13:g.32316407_32316409del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32316410_32316412del , CM000675.2:g.32316410_32316412del	GRCh38
NC_000013.10:g.32890547_32890549del , CM000675.1:g.32890547_32890549del	GRCh37
NC_000013.9:g.31788547_31788549del	NCBI36
NG_012772.3:g.5931_5933del , LRG_293:g.5931_5933del
NG_017006.1:g.546_548del
NG_017006.2:g.3955_3957del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.-39-12_-39-10del	ENSP00000434898.2:n.-39-12_-39-10del
ENST00000528762.2:c.-39-12_-39-10del	ENSP00000433168.2:n.-39-12_-39-10del
ENST00000530893.7:c.-404-12_-404-10del	ENSP00000499438.2:n.-404-12_-404-10del
ENST00000665585.2:c.-39-12_-39-10del	ENSP00000499570.2:n.-39-12_-39-10del
ENST00000666593.2:c.-39-12_-39-10del	ENSP00000499256.2:n.-39-12_-39-10del
ENST00000700202.2:c.-39-12_-39-10del	ENSP00000514856.2:n.-39-12_-39-10del
ENST00000700199.1:n.86-12_86-10del
ENST00000700200.1:n.86-12_86-10del
ENST00000700201.1:c.-39-12_-39-10del	ENSP00000514855.1:n.-39-12_-39-10del
ENST00000380152.8:c.-39-12_-39-10del MANE Select	ENSP00000369497.3:n.-39-12_-39-10del
ENST00000544455.6:c.-39-12_-39-10del	ENSP00000439902.1:n.-39-12_-39-10del
ENST00000680887.1:c.-39-12_-39-10del	ENSP00000505508.1:n.-39-12_-39-10del
ENST00000380152.7:c.-39-12_-39-10del	ENSP00000369497.3:n.-39-12_-39-10del
ENST00000530893.6:n.164-12_164-10del
ENST00000544455.5:c.-39-12_-39-10del	ENSP00000439902.1:n.-39-12_-39-10del
NM_000059.3:c.-39-12_-39-10del , LRG_293t1:c.-39-12_-39-10del	NP_000050.2:n.-39-12_-39-10del
XM_011535203.1:c.-39-12_-39-10del	XP_011533505.1:n.-39-12_-39-10del
XM_011535204.1:c.-39-12_-39-10del	XP_011533506.1:n.-39-12_-39-10del
XM_011535205.1:c.-39-12_-39-10del	XP_011533507.1:n.-39-12_-39-10del
NM_000059.4:c.-39-12_-39-10del MANE Select	NP_000050.3:n.-39-12_-39-10del