Canonical Allele Identifier: CA10589302

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 266865
• ClinVar RCV Id: RCV000256749 ; RCV001185467 ; RCV000692813
• dbSNP Id: rs886040582
• MyVariant Identifiers: chr13:g.32913711del (hg19) ; chr13:g.32339574del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32339574del , CM000675.2:g.32339574del	GRCh38
NC_000013.10:g.32913711del , CM000675.1:g.32913711del	GRCh37
NC_000013.9:g.31811711del	NCBI36
NG_012772.3:g.29095del , LRG_293:g.29095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.5219del	ENSP00000434898.2:p.Leu1740Ter
ENST00000528762.2:c.5219del	ENSP00000433168.2:p.Leu1740Ter
ENST00000530893.7:c.4850del	ENSP00000499438.2:p.Leu1617Ter
ENST00000665585.2:c.5219del	ENSP00000499570.2:p.Leu1740Ter
ENST00000666593.2:c.5219del	ENSP00000499256.2:p.Leu1740Ter
ENST00000700202.2:c.5219del	ENSP00000514856.2:p.Leu1740Ter
ENST00000380152.8:c.5219del MANE Select	ENSP00000369497.3:p.Leu1740Ter
ENST00000544455.6:c.5219del	ENSP00000439902.1:p.Leu1740Ter
ENST00000614259.2:c.5219del	ENSP00000506251.1:p.Leu1740Ter
ENST00000680887.1:c.5219del	ENSP00000505508.1:p.Leu1740Ter
ENST00000380152.7:c.5219del	ENSP00000369497.3:p.Leu1740Ter
ENST00000544455.5:c.5219del	ENSP00000439902.1:p.Leu1740Ter
ENST00000614259.1:n.5219del
NM_000059.3:c.5219del , LRG_293t1:c.5219del	NP_000050.2:p.Leu1740Ter
XM_011535203.1:c.5219del	XP_011533505.1:p.Leu1740Ter
XM_011535204.1:c.5219del	XP_011533506.1:p.Leu1740Ter
XM_011535205.1:c.5219del	XP_011533507.1:p.Leu1740Ter
NM_000059.4:c.5219del MANE Select	NP_000050.3:p.Leu1740Ter