Canonical Allele Identifier: CA954700042

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2774961
• ClinVar RCV Id: RCV003585020
• dbSNP Id: rs2072908460
• gnomAD v3: 13-32379791-CTG-C
• gnomAD v4: 13-32379791-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379793_32379794del , CM000675.2:g.32379793_32379794del	GRCh38
NC_000013.10:g.32953930_32953931del , CM000675.1:g.32953930_32953931del	GRCh37
NC_000013.9:g.31851930_31851931del	NCBI36
NG_012772.3:g.69314_69315del , LRG_293:g.69314_69315del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8997_8998del	ENSP00000434898.2:p.Leu3000AsnfsTer17
ENST00000528762.2:c.*364_*365del	ENSP00000433168.2:n.*364_*365del
ENST00000530893.7:c.8628_8629del	ENSP00000499438.2:p.Leu2877AsnfsTer17
ENST00000665585.2:c.*559_*560del	ENSP00000499570.2:n.*559_*560del
ENST00000666593.2:c.8997_8998del	ENSP00000499256.2:p.Leu3000AsnfsTer17
ENST00000700202.2:c.8954-8_8954-7del	ENSP00000514856.2:n.8954-8_8954-7del
ENST00000700202.1:c.1421-8_1421-7del	ENSP00000514856.1:n.1421-8_1421-7del
ENST00000700203.1:n.1124_1125del
ENST00000380152.8:c.8997_8998del MANE Select	ENSP00000369497.3:p.Leu3000AsnfsTer17
ENST00000544455.6:c.8997_8998del	ENSP00000439902.1:p.Leu3000AsnfsTer17
ENST00000614259.2:c.9005_9006del	ENSP00000506251.1:n.9005_9006del
ENST00000665585.1:c.1875_1876del
ENST00000680887.1:c.8997_8998del	ENSP00000505508.1:p.Leu3000AsnfsTer17
ENST00000380152.7:c.8997_8998del	ENSP00000369497.3:p.Leu3000AsnfsTer17
ENST00000544455.5:c.8997_8998del	ENSP00000439902.1:p.Leu3000AsnfsTer17
NM_000059.3:c.8997_8998del , LRG_293t1:c.8997_8998del	NP_000050.2:p.Leu3000AsnfsTer17
XM_011535203.1:c.8997_8998del	XP_011533505.1:p.Leu3000AsnfsTer17
XM_011535204.1:c.8901_8902del	XP_011533506.1:p.Leu2968AsnfsTer17
XM_011535205.1:c.*35_*36del	XP_011533507.1:n.*35_*36del
NM_000059.4:c.8997_8998del MANE Select	NP_000050.3:p.Leu3000AsnfsTer17