Canonical Allele Identifier: CA2740097657

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 3063906
• ClinVar RCV Id: RCV003988494

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340163_32340164del , CM000675.2:g.32340163_32340164del	GRCh38
NC_000013.10:g.32914300_32914301del , CM000675.1:g.32914300_32914301del	GRCh37
NC_000013.9:g.31812300_31812301del	NCBI36
NG_012772.3:g.29684_29685del , LRG_293:g.29684_29685del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.5808_5809del	ENSP00000434898.2:p.Met1936IlefsTer8
ENST00000528762.2:c.5808_5809del	ENSP00000433168.2:p.Met1936IlefsTer8
ENST00000530893.7:c.5439_5440del	ENSP00000499438.2:p.Met1813IlefsTer8
ENST00000665585.2:c.5808_5809del	ENSP00000499570.2:p.Met1936IlefsTer8
ENST00000666593.2:c.5808_5809del	ENSP00000499256.2:p.Met1936IlefsTer8
ENST00000700202.2:c.5808_5809del	ENSP00000514856.2:p.Met1936IlefsTer8
ENST00000380152.8:c.5808_5809del MANE Select	ENSP00000369497.3:p.Met1936IlefsTer8
ENST00000544455.6:c.5808_5809del	ENSP00000439902.1:p.Met1936IlefsTer8
ENST00000614259.2:c.5808_5809del	ENSP00000506251.1:p.Met1936IlefsTer8
ENST00000680887.1:c.5808_5809del	ENSP00000505508.1:p.Met1936IlefsTer8
ENST00000380152.7:c.5808_5809del	ENSP00000369497.3:p.Met1936IlefsTer8
ENST00000544455.5:c.5808_5809del	ENSP00000439902.1:p.Met1936IlefsTer8
ENST00000614259.1:n.5808_5809del
NM_000059.3:c.5808_5809del , LRG_293t1:c.5808_5809del	NP_000050.2:p.Met1936IlefsTer8
XM_011535203.1:c.5808_5809del	XP_011533505.1:p.Met1936IlefsTer8
XM_011535204.1:c.5808_5809del	XP_011533506.1:p.Met1936IlefsTer8
XM_011535205.1:c.5808_5809del	XP_011533507.1:p.Met1936IlefsTer8
NM_000059.4:c.5808_5809del MANE Select	NP_000050.3:p.Met1936IlefsTer8