Canonical Allele Identifier: CA658798080

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 514121
• ClinVar RCV Id: RCV000609505
• dbSNP Id: rs1555279959

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32315652_32315655delinsCTCCGCG , CM000675.2:g.32315652_32315655delinsCTCCGCG	GRCh38
NC_000013.10:g.32889789_32889792delinsCTCCGCG , CM000675.1:g.32889789_32889792delinsCTCCGCG	GRCh37
NC_000013.9:g.31787789_31787792delinsCTCCGCG	NCBI36
NG_012772.3:g.5173_5176delinsCTCCGCG , LRG_293:g.5173_5176delinsCTCCGCG
NG_017006.1:g.1300_1303delinsCGCGGAG
NG_017006.2:g.4709_4712delinsCGCGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.-55_-52delinsCTCCGCG	ENSP00000434898.2:n.-55_-52delinsCTCCGCG
ENST00000528762.2:c.-55_-52delinsCTCCGCG	ENSP00000433168.2:n.-55_-52delinsCTCCGCG
ENST00000530893.7:c.-420_-417delinsCTCCGCG	ENSP00000499438.2:n.-420_-417delinsCTCCGCG
ENST00000665585.2:c.-55_-52delinsCTCCGCG	ENSP00000499570.2:n.-55_-52delinsCTCCGCG
ENST00000666593.2:c.-55_-52delinsCTCCGCG	ENSP00000499256.2:n.-55_-52delinsCTCCGCG
ENST00000700202.2:c.-55_-52delinsCTCCGCG	ENSP00000514856.2:n.-55_-52delinsCTCCGCG
ENST00000700199.1:n.70_73delinsCTCCGCG
ENST00000700200.1:n.70_73delinsCTCCGCG
ENST00000700201.1:c.-55_-52delinsCTCCGCG	ENSP00000514855.1:n.-55_-52delinsCTCCGCG
ENST00000380152.8:c.-55_-52delinsCTCCGCG MANE Select	ENSP00000369497.3:n.-55_-52delinsCTCCGCG
ENST00000544455.6:c.-40+507_-40+510delinsCTCCGCG	ENSP00000439902.1:n.-40+507_-40+510delinsCTCCGCG
ENST00000380152.7:c.-55_-52delinsCTCCGCG	ENSP00000369497.3:n.-55_-52delinsCTCCGCG
ENST00000530893.6:n.148_151delinsCTCCGCG
ENST00000544455.5:c.-55_-52delinsCTCCGCG	ENSP00000439902.1:n.-55_-52delinsCTCCGCG
NM_000059.3:c.-55_-52delinsCTCCGCG , LRG_293t1:c.-55_-52delinsCTCCGCG	NP_000050.2:n.-55_-52delinsCTCCGCG
XM_011535203.1:c.-40+507_-40+510delinsCTCCGCG	XP_011533505.1:n.-40+507_-40+510delinsCTCCGCG
XM_011535204.1:c.-55_-52delinsCTCCGCG	XP_011533506.1:n.-55_-52delinsCTCCGCG
XM_011535205.1:c.-55_-52delinsCTCCGCG	XP_011533507.1:n.-55_-52delinsCTCCGCG
NM_000059.4:c.-55_-52delinsCTCCGCG MANE Select	NP_000050.3:n.-55_-52delinsCTCCGCG