Canonical Allele Identifier: CA026036
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 52778
ClinVar RCV Id: RCV000114067 RCV000481070 RCV000781100 RCV001019008
dbSNP Id: rs80359185
MyVariant Identifiers: chr13:g.32954241T>A (hg19) chr13:g.32380104T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32380104T>A , CM000675.2:g.32380104T>A GRCh38
NC_000013.10:g.32954241T>A , CM000675.1:g.32954241T>A GRCh37
NC_000013.9:g.31852241T>A NCBI36
NG_012772.3:g.69625T>A , LRG_293:g.69625T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.9215T>A ENSP00000434898.2:p.Val3072Glu
ENST00000528762.2:c.*582T>A ENSP00000433168.2:n.*582T>A
ENST00000530893.7:c.8846T>A ENSP00000499438.2:p.Val2949Glu
ENST00000665585.2:c.*777T>A ENSP00000499570.2:n.*777T>A
ENST00000666593.2:c.9215T>A ENSP00000499256.2:p.Val3072Glu
ENST00000700202.2:c.9164T>A ENSP00000514856.2:p.Val3055Glu
ENST00000700202.1:c.1631T>A ENSP00000514856.1:p.Val544Glu
ENST00000700203.1:n.1342T>A
ENST00000380152.8:c.9215T>A MANE Select ENSP00000369497.3:p.Val3072Glu
ENST00000544455.6:c.9215T>A ENSP00000439902.1:p.Val3072Glu
ENST00000614259.2:c.9223T>A ENSP00000506251.1:n.9223T>A
ENST00000665585.1:c.2093T>A
ENST00000666593.1:c.98T>A ENSP00000499256.1:p.Val33Glu
ENST00000680887.1:c.9215T>A ENSP00000505508.1:p.Val3072Glu
ENST00000380152.7:c.9215T>A ENSP00000369497.3:p.Val3072Glu
ENST00000470094.1:c.172T>A
ENST00000544455.5:c.9215T>A ENSP00000439902.1:p.Val3072Glu
NM_000059.3:c.9215T>A , LRG_293t1:c.9215T>A NP_000050.2:p.Val3072Glu
XM_011535203.1:c.9215T>A XP_011533505.1:p.Val3072Glu
XM_011535204.1:c.9119T>A XP_011533506.1:p.Val3040Glu
NM_000059.4:c.9215T>A MANE Select NP_000050.3:p.Val3072Glu
Search 100 bp 5'
Search 100 bp 3'