Canonical Allele Identifier: CA2082751573

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1046165
• ClinVar RCV Id: RCV001350686
• dbSNP Id: rs2072348629

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326491_32326492delinsAT , CM000675.2:g.32326491_32326492delinsAT	GRCh38
NC_000013.10:g.32900628_32900629delinsAT , CM000675.1:g.32900628_32900629delinsAT	GRCh37
NC_000013.9:g.31798628_31798629delinsAT	NCBI36
NG_012772.3:g.16012_16013delinsAT , LRG_293:g.16012_16013delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.517-8_517-7delinsAT	ENSP00000434898.2:n.517-8_517-7delinsAT
ENST00000528762.2:c.517-8_517-7delinsAT	ENSP00000433168.2:n.517-8_517-7delinsAT
ENST00000530893.7:c.148-8_148-7delinsAT	ENSP00000499438.2:n.148-8_148-7delinsAT
ENST00000665585.2:c.517-8_517-7delinsAT	ENSP00000499570.2:n.517-8_517-7delinsAT
ENST00000666593.2:c.517-8_517-7delinsAT	ENSP00000499256.2:n.517-8_517-7delinsAT
ENST00000700202.2:c.517-8_517-7delinsAT	ENSP00000514856.2:n.517-8_517-7delinsAT
ENST00000700200.1:n.388-8_388-7delinsAT
ENST00000700201.1:c.*296-8_*296-7delinsAT	ENSP00000514855.1:n.*296-8_*296-7delinsAT
ENST00000380152.8:c.517-8_517-7delinsAT MANE Select	ENSP00000369497.3:n.517-8_517-7delinsAT
ENST00000544455.6:c.517-8_517-7delinsAT	ENSP00000439902.1:n.517-8_517-7delinsAT
ENST00000614259.2:c.517-8_517-7delinsAT	ENSP00000506251.1:n.517-8_517-7delinsAT
ENST00000680887.1:c.517-8_517-7delinsAT	ENSP00000505508.1:n.517-8_517-7delinsAT
ENST00000380152.7:c.517-8_517-7delinsAT	ENSP00000369497.3:n.517-8_517-7delinsAT
ENST00000530893.6:n.715-8_715-7delinsAT
ENST00000544455.5:c.517-8_517-7delinsAT	ENSP00000439902.1:n.517-8_517-7delinsAT
ENST00000614259.1:n.517-8_517-7delinsAT
NM_000059.3:c.517-8_517-7delinsAT , LRG_293t1:c.517-8_517-7delinsAT	NP_000050.2:n.517-8_517-7delinsAT
XM_011535203.1:c.517-8_517-7delinsAT	XP_011533505.1:n.517-8_517-7delinsAT
XM_011535204.1:c.517-8_517-7delinsAT	XP_011533506.1:n.517-8_517-7delinsAT
XM_011535205.1:c.517-8_517-7delinsAT	XP_011533507.1:n.517-8_517-7delinsAT
NM_000059.4:c.517-8_517-7delinsAT MANE Select	NP_000050.3:n.517-8_517-7delinsAT