Canonical Allele Identifier: CA025896

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38199
• ClinVar RCV Id: RCV000031782 ; RCV000132512 ; RCV000204559 ; RCV000503174 ; RCV001081516 ; RCV001353794 ; RCV003492319 ; RCV004541051
• dbSNP Id: rs587782878
• ExAC: 13:32953879 CCAAA / C
• gnomAD v2: 13-32953879-CCAAA-C
• gnomAD v3: 13-32379742-CCAAA-C
• gnomAD v4: 13-32379742-CCAAA-C
• MyVariant Identifiers: chr13:g.32953882_32953885del (hg19) ; chr13:g.32953880_32953883del (hg19) ; chr13:g.32379745_32379748del (hg38) ; chr13:g.32379743_32379746del (hg38)
• PubMed: PMID:21218378

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379745_32379748del , CM000675.2:g.32379745_32379748del	GRCh38
NC_000013.10:g.32953882_32953885del , CM000675.1:g.32953882_32953885del	GRCh37
NC_000013.9:g.31851882_31851885del	NCBI36
NG_012772.3:g.69266_69269del , LRG_293:g.69266_69269del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8954-5_8954-2del	ENSP00000434898.2:n.8954-5_8954-2del
ENST00000528762.2:c.*321-5_*321-2del	ENSP00000433168.2:n.*321-5_*321-2del
ENST00000530893.7:c.8585-5_8585-2del	ENSP00000499438.2:n.8585-5_8585-2del
ENST00000665585.2:c.*516-5_*516-2del	ENSP00000499570.2:n.*516-5_*516-2del
ENST00000666593.2:c.8954-5_8954-2del	ENSP00000499256.2:n.8954-5_8954-2del
ENST00000700202.2:c.8954-56_8954-53del	ENSP00000514856.2:n.8954-56_8954-53del
ENST00000700202.1:c.1421-56_1421-53del	ENSP00000514856.1:n.1421-56_1421-53del
ENST00000700203.1:n.1081-5_1081-2del
ENST00000380152.8:c.8954-5_8954-2del MANE Select	ENSP00000369497.3:n.8954-5_8954-2del
ENST00000544455.6:c.8954-5_8954-2del	ENSP00000439902.1:n.8954-5_8954-2del
ENST00000614259.2:c.8962-5_8962-2del	ENSP00000506251.1:n.8962-5_8962-2del
ENST00000665585.1:c.1832-5_1832-2del
ENST00000680887.1:c.8954-5_8954-2del	ENSP00000505508.1:n.8954-5_8954-2del
ENST00000380152.7:c.8954-5_8954-2del	ENSP00000369497.3:n.8954-5_8954-2del
ENST00000544455.5:c.8954-5_8954-2del	ENSP00000439902.1:n.8954-5_8954-2del
NM_000059.3:c.8954-5_8954-2del , LRG_293t1:c.8954-5_8954-2del	NP_000050.2:n.8954-5_8954-2del
XM_011535203.1:c.8954-5_8954-2del	XP_011533505.1:n.8954-5_8954-2del
XM_011535204.1:c.8858-5_8858-2del	XP_011533506.1:n.8858-5_8858-2del
XM_011535205.1:c.8755-5_8755-2del	XP_011533507.1:n.8755-5_8755-2del
NM_000059.4:c.8954-5_8954-2del MANE Select	NP_000050.3:n.8954-5_8954-2del