Canonical Allele Identifier: CA2582341822

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2586286
• ClinVar RCV Id: RCV003341740 ; RCV003477084

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394702_32394720del , CM000675.2:g.32394702_32394720del	GRCh38
NC_000013.10:g.32968839_32968857del , CM000675.1:g.32968839_32968857del	GRCh37
NC_000013.9:g.31866839_31866857del	NCBI36
NG_012772.3:g.84223_84241del , LRG_293:g.84223_84241del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9270_9288del	ENSP00000434898.2:p.Tyr3092ThrfsTer6
ENST00000528762.2:c.*637_*655del	ENSP00000433168.2:n.*637_*655del
ENST00000530893.7:c.8901_8919del	ENSP00000499438.2:p.Tyr2969ThrfsTer6
ENST00000665585.2:c.*832_*850del	ENSP00000499570.2:n.*832_*850del
ENST00000666593.2:c.*115_*133del	ENSP00000499256.2:n.*115_*133del
ENST00000700202.2:c.9219_9237del	ENSP00000514856.2:p.Tyr3075ThrfsTer6
ENST00000700202.1:c.1686_1704del	ENSP00000514856.1:p.Tyr564ThrfsTer6
ENST00000700203.1:n.1397_1415del
ENST00000380152.8:c.9270_9288del MANE Select	ENSP00000369497.3:p.Tyr3092ThrfsTer6
ENST00000544455.6:c.9270_9288del	ENSP00000439902.1:p.Tyr3092ThrfsTer6
ENST00000614259.2:c.9278_9296del	ENSP00000506251.1:n.9278_9296del
ENST00000665585.1:c.2148_2166del
ENST00000666593.1:c.292_310del	ENSP00000499256.1:n.292_310del
ENST00000680887.1:c.9270_9288del	ENSP00000505508.1:p.Tyr3092ThrfsTer6
ENST00000380152.7:c.9270_9288del	ENSP00000369497.3:p.Tyr3092ThrfsTer6
ENST00000470094.1:c.227_245del
ENST00000544455.5:c.9270_9288del	ENSP00000439902.1:p.Tyr3092ThrfsTer6
NM_000059.3:c.9270_9288del , LRG_293t1:c.9270_9288del	NP_000050.2:p.Tyr3092ThrfsTer6
XM_011535203.1:c.9270_9288del	XP_011533505.1:p.Tyr3092ThrfsTer6
XM_011535204.1:c.9174_9192del	XP_011533506.1:p.Tyr3060ThrfsTer6
NM_000059.4:c.9270_9288del MANE Select	NP_000050.3:p.Tyr3092ThrfsTer6