Canonical Allele Identifier: CA658798082
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 513158
ClinVar RCV Id: RCV000609673
dbSNP Id: rs770475551

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32319057G>A , CM000675.2:g.32319057G>A GRCh38
NC_000013.10:g.32893194G>A , CM000675.1:g.32893194G>A GRCh37
NC_000013.9:g.31791194G>A NCBI36
NG_012772.3:g.8578G>A , LRG_293:g.8578G>A
NG_017006.2:g.1307C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.68-20G>A ENSP00000434898.2:n.68-20G>A
ENST00000528762.2:c.68-20G>A ENSP00000433168.2:n.68-20G>A
ENST00000530893.7:c.-302-20G>A ENSP00000499438.2:n.-302-20G>A
ENST00000665585.2:c.68-20G>A ENSP00000499570.2:n.68-20G>A
ENST00000666593.2:c.68-20G>A ENSP00000499256.2:n.68-20G>A
ENST00000700202.2:c.68-20G>A ENSP00000514856.2:n.68-20G>A
ENST00000700200.1:n.191+2530G>A
ENST00000700201.1:c.68-20G>A ENSP00000514855.1:n.68-20G>A
ENST00000380152.8:c.68-20G>A MANE Select ENSP00000369497.3:n.68-20G>A
ENST00000544455.6:c.68-20G>A ENSP00000439902.1:n.68-20G>A
ENST00000614259.2:c.68-20G>A ENSP00000506251.1:n.68-20G>A
ENST00000680887.1:c.68-20G>A ENSP00000505508.1:n.68-20G>A
ENST00000380152.7:c.68-20G>A ENSP00000369497.3:n.68-20G>A
ENST00000530893.6:n.266-20G>A
ENST00000544455.5:c.68-20G>A ENSP00000439902.1:n.68-20G>A
ENST00000614259.1:n.68-20G>A
NM_000059.3:c.68-20G>A , LRG_293t1:c.68-20G>A NP_000050.2:n.68-20G>A
XM_011535203.1:c.68-20G>A XP_011533505.1:n.68-20G>A
XM_011535204.1:c.68-20G>A XP_011533506.1:n.68-20G>A
XM_011535205.1:c.68-20G>A XP_011533507.1:n.68-20G>A
NM_000059.4:c.68-20G>A MANE Select NP_000050.3:n.68-20G>A