Canonical Allele Identifier: CA10586089

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 252859
• ClinVar RCV Id: RCV000239130 ; RCV000812850 ; RCV001175898 ; RCV003475848
• dbSNP Id: rs80359198
• COSMIC: COSM24506
• MyVariant Identifiers: chr13:g.32968854C>A (hg19) ; chr13:g.32394717C>A (hg38)
• CIViC: CA10586089

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394717C>A , CM000675.2:g.32394717C>A	GRCh38
NC_000013.10:g.32968854C>A , CM000675.1:g.32968854C>A	GRCh37
NC_000013.9:g.31866854C>A	NCBI36
NG_012772.3:g.84238C>A , LRG_293:g.84238C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9285C>A	ENSP00000434898.2:p.Asp3095Glu
ENST00000528762.2:c.*652C>A	ENSP00000433168.2:n.*652C>A
ENST00000530893.7:c.8916C>A	ENSP00000499438.2:p.Asp2972Glu
ENST00000665585.2:c.*847C>A	ENSP00000499570.2:n.*847C>A
ENST00000666593.2:c.*130C>A	ENSP00000499256.2:n.*130C>A
ENST00000700202.2:c.9234C>A	ENSP00000514856.2:p.Asp3078Glu
ENST00000700202.1:c.1701C>A	ENSP00000514856.1:p.Asp567Glu
ENST00000700203.1:n.1412C>A
ENST00000380152.8:c.9285C>A MANE Select	ENSP00000369497.3:p.Asp3095Glu
ENST00000544455.6:c.9285C>A	ENSP00000439902.1:p.Asp3095Glu
ENST00000614259.2:c.9293C>A	ENSP00000506251.1:n.9293C>A
ENST00000665585.1:c.2163C>A
ENST00000666593.1:c.307C>A	ENSP00000499256.1:n.307C>A
ENST00000680887.1:c.9285C>A	ENSP00000505508.1:p.Asp3095Glu
ENST00000380152.7:c.9285C>A	ENSP00000369497.3:p.Asp3095Glu
ENST00000470094.1:c.242C>A
ENST00000544455.5:c.9285C>A	ENSP00000439902.1:p.Asp3095Glu
NM_000059.3:c.9285C>A , LRG_293t1:c.9285C>A	NP_000050.2:p.Asp3095Glu
XM_011535203.1:c.9285C>A	XP_011533505.1:p.Asp3095Glu
XM_011535204.1:c.9189C>A	XP_011533506.1:p.Asp3063Glu
NM_000059.4:c.9285C>A MANE Select	NP_000050.3:p.Asp3095Glu