Canonical Allele Identifier: CA025295

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 96859
• ClinVar RCV Id: RCV000082980 ; RCV000165518 ; RCV000755223 ; RCV003644903
• dbSNP Id: rs431825357
• MyVariant Identifiers: chr13:g.32936665T>C (hg19) ; chr13:g.32362528T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362528T>C , CM000675.2:g.32362528T>C	GRCh38
NC_000013.10:g.32936665T>C , CM000675.1:g.32936665T>C	GRCh37
NC_000013.9:g.31834665T>C	NCBI36
NG_012772.3:g.52049T>C , LRG_293:g.52049T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7811T>C	ENSP00000434898.2:p.Leu2604Pro
ENST00000528762.2:c.7811T>C	ENSP00000433168.2:p.Leu2604Pro
ENST00000530893.7:c.7442T>C	ENSP00000499438.2:p.Leu2481Pro
ENST00000665585.2:c.7811T>C	ENSP00000499570.2:p.Leu2604Pro
ENST00000666593.2:c.7811T>C	ENSP00000499256.2:p.Leu2604Pro
ENST00000700202.2:c.7811T>C	ENSP00000514856.2:p.Leu2604Pro
ENST00000700202.1:c.278T>C	ENSP00000514856.1:p.Leu93Pro
ENST00000380152.8:c.7811T>C MANE Select	ENSP00000369497.3:p.Leu2604Pro
ENST00000544455.6:c.7811T>C	ENSP00000439902.1:p.Leu2604Pro
ENST00000614259.2:c.7819T>C	ENSP00000506251.1:p.Cys2607Arg
ENST00000665585.1:c.376T>C
ENST00000680887.1:c.7811T>C	ENSP00000505508.1:p.Leu2604Pro
ENST00000380152.7:c.7811T>C	ENSP00000369497.3:p.Leu2604Pro
ENST00000544455.5:c.7811T>C	ENSP00000439902.1:p.Leu2604Pro
ENST00000614259.1:n.7819T>C
NM_000059.3:c.7811T>C , LRG_293t1:c.7811T>C	NP_000050.2:p.Leu2604Pro
XM_011535203.1:c.7811T>C	XP_011533505.1:p.Leu2604Pro
XM_011535204.1:c.7715T>C	XP_011533506.1:p.Leu2572Pro
XM_011535205.1:c.7811T>C	XP_011533507.1:p.Leu2604Pro
NM_000059.4:c.7811T>C MANE Select	NP_000050.3:p.Leu2604Pro