Canonical Allele Identifier: CA2739277528

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2814183
• ClinVar RCV Id: RCV003645559

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394700_32394712del , CM000675.2:g.32394700_32394712del	GRCh38
NC_000013.10:g.32968837_32968849del , CM000675.1:g.32968837_32968849del	GRCh37
NC_000013.9:g.31866837_31866849del	NCBI36
NG_012772.3:g.84221_84233del , LRG_293:g.84221_84233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9268_9280del	ENSP00000434898.2:p.Phe3090GlnfsTer10
ENST00000528762.2:c.*635_*647del	ENSP00000433168.2:n.*635_*647del
ENST00000530893.7:c.8899_8911del	ENSP00000499438.2:p.Phe2967GlnfsTer10
ENST00000665585.2:c.*830_*842del	ENSP00000499570.2:n.*830_*842del
ENST00000666593.2:c.*113_*125del	ENSP00000499256.2:n.*113_*125del
ENST00000700202.2:c.9217_9229del	ENSP00000514856.2:p.Phe3073GlnfsTer10
ENST00000700202.1:c.1684_1696del	ENSP00000514856.1:p.Phe562GlnfsTer10
ENST00000700203.1:n.1395_1407del
ENST00000380152.8:c.9268_9280del MANE Select	ENSP00000369497.3:p.Phe3090GlnfsTer10
ENST00000544455.6:c.9268_9280del	ENSP00000439902.1:p.Phe3090GlnfsTer10
ENST00000614259.2:c.9276_9288del	ENSP00000506251.1:n.9276_9288del
ENST00000665585.1:c.2146_2158del
ENST00000666593.1:c.290_302del	ENSP00000499256.1:n.290_302del
ENST00000680887.1:c.9268_9280del	ENSP00000505508.1:p.Phe3090GlnfsTer10
ENST00000380152.7:c.9268_9280del	ENSP00000369497.3:p.Phe3090GlnfsTer10
ENST00000470094.1:c.225_237del
ENST00000544455.5:c.9268_9280del	ENSP00000439902.1:p.Phe3090GlnfsTer10
NM_000059.3:c.9268_9280del , LRG_293t1:c.9268_9280del	NP_000050.2:p.Phe3090GlnfsTer10
XM_011535203.1:c.9268_9280del	XP_011533505.1:p.Phe3090GlnfsTer10
XM_011535204.1:c.9172_9184del	XP_011533506.1:p.Phe3058GlnfsTer10
NM_000059.4:c.9268_9280del MANE Select	NP_000050.3:p.Phe3090GlnfsTer10