Canonical Allele Identifier: CA2695199693

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2680272
• ClinVar RCV Id: RCV003460264

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394690_32394694del , CM000675.2:g.32394690_32394694del	GRCh38
NC_000013.10:g.32968827_32968831del , CM000675.1:g.32968827_32968831del	GRCh37
NC_000013.9:g.31866827_31866831del	NCBI36
NG_012772.3:g.84211_84215del , LRG_293:g.84211_84215del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9258_9262del	ENSP00000434898.2:p.Leu3087ProfsTer22
ENST00000528762.2:c.*625_*629del	ENSP00000433168.2:n.*625_*629del
ENST00000530893.7:c.8889_8893del	ENSP00000499438.2:p.Leu2964ProfsTer22
ENST00000665585.2:c.*820_*824del	ENSP00000499570.2:n.*820_*824del
ENST00000666593.2:c.*103_*107del	ENSP00000499256.2:n.*103_*107del
ENST00000700202.2:c.9207_9211del	ENSP00000514856.2:p.Leu3070ProfsTer22
ENST00000700202.1:c.1674_1678del	ENSP00000514856.1:p.Leu559ProfsTer22
ENST00000700203.1:n.1385_1389del
ENST00000380152.8:c.9258_9262del MANE Select	ENSP00000369497.3:p.Leu3087ProfsTer22
ENST00000544455.6:c.9258_9262del	ENSP00000439902.1:p.Leu3087ProfsTer22
ENST00000614259.2:c.9266_9270del	ENSP00000506251.1:n.9266_9270del
ENST00000665585.1:c.2136_2140del
ENST00000666593.1:c.280_284del	ENSP00000499256.1:n.280_284del
ENST00000680887.1:c.9258_9262del	ENSP00000505508.1:p.Leu3087ProfsTer22
ENST00000380152.7:c.9258_9262del	ENSP00000369497.3:p.Leu3087ProfsTer22
ENST00000470094.1:c.215_219del
ENST00000544455.5:c.9258_9262del	ENSP00000439902.1:p.Leu3087ProfsTer22
NM_000059.3:c.9258_9262del , LRG_293t1:c.9258_9262del	NP_000050.2:p.Leu3087ProfsTer22
XM_011535203.1:c.9258_9262del	XP_011533505.1:p.Leu3087ProfsTer22
XM_011535204.1:c.9162_9166del	XP_011533506.1:p.Leu3055ProfsTer22
NM_000059.4:c.9258_9262del MANE Select	NP_000050.3:p.Leu3087ProfsTer22