Canonical Allele Identifier: CA658823615

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 548409
• ClinVar RCV Id: RCV000661757
• dbSNP Id: rs1555288382
• MyVariant Identifiers: chr13:g.32953525_32953526insG (hg19) ; chr13:g.32379388_32379389insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379388_32379389insG , CM000675.2:g.32379388_32379389insG	GRCh38
NC_000013.10:g.32953525_32953526insG , CM000675.1:g.32953525_32953526insG	GRCh37
NC_000013.9:g.31851525_31851526insG	NCBI36
NG_012772.3:g.68909_68910insG , LRG_293:g.68909_68910insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8826_8827insG	ENSP00000434898.2:p.Gln2943AlafsTer7
ENST00000528762.2:c.*193_*194insG	ENSP00000433168.2:n.*193_*194insG
ENST00000530893.7:c.8457_8458insG	ENSP00000499438.2:p.Gln2820AlafsTer7
ENST00000665585.2:c.*388_*389insG	ENSP00000499570.2:n.*388_*389insG
ENST00000666593.2:c.8826_8827insG	ENSP00000499256.2:p.Gln2943AlafsTer7
ENST00000700202.2:c.8826_8827insG	ENSP00000514856.2:p.Gln2943AlafsTer7
ENST00000700202.1:c.1293_1294insG	ENSP00000514856.1:p.Gln432AlafsTer7
ENST00000700203.1:n.953_954insG
ENST00000380152.8:c.8826_8827insG MANE Select	ENSP00000369497.3:p.Gln2943AlafsTer7
ENST00000544455.6:c.8826_8827insG	ENSP00000439902.1:p.Gln2943AlafsTer7
ENST00000614259.2:c.8834_8835insG	ENSP00000506251.1:n.8834_8835insG
ENST00000665585.1:c.1704_1705insG
ENST00000680887.1:c.8826_8827insG	ENSP00000505508.1:p.Gln2943AlafsTer7
ENST00000380152.7:c.8826_8827insG	ENSP00000369497.3:p.Gln2943AlafsTer7
ENST00000528762.1:c.388_389insG	ENSP00000433168.1:n.388_389insG
ENST00000544455.5:c.8826_8827insG	ENSP00000439902.1:p.Gln2943AlafsTer7
NM_000059.3:c.8826_8827insG , LRG_293t1:c.8826_8827insG	NP_000050.2:p.Gln2943AlafsTer7
XM_011535203.1:c.8826_8827insG	XP_011533505.1:p.Gln2943AlafsTer7
XM_011535204.1:c.8730_8731insG	XP_011533506.1:p.Gln2911AlafsTer7
XM_011535205.1:c.8755-362_8755-361insG	XP_011533507.1:n.8755-362_8755-361insG
NM_000059.4:c.8826_8827insG MANE Select	NP_000050.3:p.Gln2943AlafsTer7