Canonical Allele Identifier: CA026073

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52796
• ClinVar RCV Id: RCV000114083 ; RCV001346740 ; RCV002371876
• dbSNP Id: rs80359193
• MyVariant Identifiers: chr13:g.32968832C>T (hg19) ; chr13:g.32394695C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394695C>T , CM000675.2:g.32394695C>T	GRCh38
NC_000013.10:g.32968832C>T , CM000675.1:g.32968832C>T	GRCh37
NC_000013.9:g.31866832C>T	NCBI36
NG_012772.3:g.84216C>T , LRG_293:g.84216C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9263C>T	ENSP00000434898.2:p.Ala3088Val
ENST00000528762.2:c.*630C>T	ENSP00000433168.2:n.*630C>T
ENST00000530893.7:c.8894C>T	ENSP00000499438.2:p.Ala2965Val
ENST00000665585.2:c.*825C>T	ENSP00000499570.2:n.*825C>T
ENST00000666593.2:c.*108C>T	ENSP00000499256.2:n.*108C>T
ENST00000700202.2:c.9212C>T	ENSP00000514856.2:p.Ala3071Val
ENST00000700202.1:c.1679C>T	ENSP00000514856.1:p.Ala560Val
ENST00000700203.1:n.1390C>T
ENST00000380152.8:c.9263C>T MANE Select	ENSP00000369497.3:p.Ala3088Val
ENST00000544455.6:c.9263C>T	ENSP00000439902.1:p.Ala3088Val
ENST00000614259.2:c.9271C>T	ENSP00000506251.1:n.9271C>T
ENST00000665585.1:c.2141C>T
ENST00000666593.1:c.285C>T	ENSP00000499256.1:n.285C>T
ENST00000680887.1:c.9263C>T	ENSP00000505508.1:p.Ala3088Val
ENST00000380152.7:c.9263C>T	ENSP00000369497.3:p.Ala3088Val
ENST00000470094.1:c.220C>T
ENST00000544455.5:c.9263C>T	ENSP00000439902.1:p.Ala3088Val
NM_000059.3:c.9263C>T , LRG_293t1:c.9263C>T	NP_000050.2:p.Ala3088Val
XM_011535203.1:c.9263C>T	XP_011533505.1:p.Ala3088Val
XM_011535204.1:c.9167C>T	XP_011533506.1:p.Ala3056Val
NM_000059.4:c.9263C>T MANE Select	NP_000050.3:p.Ala3088Val