Canonical Allele Identifier: CA2573149520

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1400844
• ClinVar RCV Id: RCV001911519
• dbSNP Id: rs2137658996

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396938dup , CM000675.2:g.32396938dup	GRCh38
NC_000013.10:g.32971075dup , CM000675.1:g.32971075dup	GRCh37
NC_000013.9:g.31869075dup	NCBI36
NG_012772.3:g.86459dup , LRG_293:g.86459dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*65dup	ENSP00000434898.2:n.*65dup
ENST00000528762.2:c.*909dup	ENSP00000433168.2:n.*909dup
ENST00000530893.7:c.9173dup	ENSP00000499438.2:p.Met3058IlefsTer8
ENST00000665585.2:c.*1104dup	ENSP00000499570.2:n.*1104dup
ENST00000700202.2:c.9491dup	ENSP00000514856.2:p.Met3164IlefsTer8
ENST00000700202.1:c.1958dup	ENSP00000514856.1:p.Met653IlefsTer8
ENST00000700203.1:n.1669dup
ENST00000380152.8:c.9542dup MANE Select	ENSP00000369497.3:p.Met3181IlefsTer8
ENST00000544455.6:c.9542dup	ENSP00000439902.1:p.Met3181IlefsTer8
ENST00000614259.2:c.9550dup	ENSP00000506251.1:n.9550dup
ENST00000665585.1:c.2420dup
ENST00000680887.1:c.9542dup	ENSP00000505508.1:p.Met3181IlefsTer8
ENST00000380152.7:c.9542dup	ENSP00000369497.3:p.Met3181IlefsTer8
ENST00000470094.1:c.625dup
ENST00000533776.1:n.130dup
ENST00000544455.5:c.9542dup	ENSP00000439902.1:p.Met3181IlefsTer8
NM_000059.3:c.9542dup , LRG_293t1:c.9542dup	NP_000050.2:p.Met3181IlefsTer8
XM_011535203.1:c.9542dup	XP_011533505.1:p.Met3181IlefsTer8
XM_011535204.1:c.9446dup	XP_011533506.1:p.Met3149IlefsTer8
NM_000059.4:c.9542dup MANE Select	NP_000050.3:p.Met3181IlefsTer8