Canonical Allele Identifier: CA022689

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 37978
• ClinVar RCV Id: RCV000031559 ; RCV000456296 ; RCV000657342 ; RCV001024316
• dbSNP Id: rs397507356
• gnomAD v4: 13-32339953-TACAG-T
• MyVariant Identifiers: chr13:g.32914095_32914098del (hg19) ; chr13:g.32339958_32339961del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32339958_32339961del , CM000675.2:g.32339958_32339961del	GRCh38
NC_000013.10:g.32914095_32914098del , CM000675.1:g.32914095_32914098del	GRCh37
NC_000013.9:g.31812095_31812098del	NCBI36
NG_012772.3:g.29479_29482del , LRG_293:g.29479_29482del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.5603_5606del	ENSP00000434898.2:p.Asp1868ValfsTer5
ENST00000528762.2:c.5603_5606del	ENSP00000433168.2:p.Asp1868ValfsTer5
ENST00000530893.7:c.5234_5237del	ENSP00000499438.2:p.Asp1745ValfsTer5
ENST00000665585.2:c.5603_5606del	ENSP00000499570.2:p.Asp1868ValfsTer5
ENST00000666593.2:c.5603_5606del	ENSP00000499256.2:p.Asp1868ValfsTer5
ENST00000700202.2:c.5603_5606del	ENSP00000514856.2:p.Asp1868ValfsTer5
ENST00000380152.8:c.5603_5606del MANE Select	ENSP00000369497.3:p.Asp1868ValfsTer5
ENST00000544455.6:c.5603_5606del	ENSP00000439902.1:p.Asp1868ValfsTer5
ENST00000614259.2:c.5603_5606del	ENSP00000506251.1:p.Asp1868ValfsTer5
ENST00000680887.1:c.5603_5606del	ENSP00000505508.1:p.Asp1868ValfsTer5
ENST00000380152.7:c.5603_5606del	ENSP00000369497.3:p.Asp1868ValfsTer5
ENST00000544455.5:c.5603_5606del	ENSP00000439902.1:p.Asp1868ValfsTer5
ENST00000614259.1:n.5603_5606del
NM_000059.3:c.5603_5606del , LRG_293t1:c.5603_5606del	NP_000050.2:p.Asp1868ValfsTer5
XM_011535203.1:c.5603_5606del	XP_011533505.1:p.Asp1868ValfsTer5
XM_011535204.1:c.5603_5606del	XP_011533506.1:p.Asp1868ValfsTer5
XM_011535205.1:c.5603_5606del	XP_011533507.1:p.Asp1868ValfsTer5
NM_000059.4:c.5603_5606del MANE Select	NP_000050.3:p.Asp1868ValfsTer5