Canonical Allele Identifier: CA913188565
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 631105
ClinVar RCV Id: RCV000777153
dbSNP Id: rs1566245006

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32362703A>T , CM000675.2:g.32362703A>T GRCh38
NC_000013.10:g.32936840A>T , CM000675.1:g.32936840A>T GRCh37
NC_000013.9:g.31834840A>T NCBI36
NG_012772.3:g.52224A>T , LRG_293:g.52224A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.7976+10A>T ENSP00000434898.2:n.7976+10A>T
ENST00000528762.2:c.7976+10A>T ENSP00000433168.2:n.7976+10A>T
ENST00000530893.7:c.7607+10A>T ENSP00000499438.2:n.7607+10A>T
ENST00000665585.2:c.7976+10A>T ENSP00000499570.2:n.7976+10A>T
ENST00000666593.2:c.7976+10A>T ENSP00000499256.2:n.7976+10A>T
ENST00000700202.2:c.7976+10A>T ENSP00000514856.2:n.7976+10A>T
ENST00000700202.1:c.443+10A>T ENSP00000514856.1:n.443+10A>T
ENST00000380152.8:c.7976+10A>T MANE Select ENSP00000369497.3:n.7976+10A>T
ENST00000544455.6:c.7976+10A>T ENSP00000439902.1:n.7976+10A>T
ENST00000614259.2:c.7984+10A>T ENSP00000506251.1:n.7984+10A>T
ENST00000665585.1:c.541+10A>T
ENST00000680887.1:c.7976+10A>T ENSP00000505508.1:n.7976+10A>T
ENST00000380152.7:c.7976+10A>T ENSP00000369497.3:n.7976+10A>T
ENST00000544455.5:c.7976+10A>T ENSP00000439902.1:n.7976+10A>T
NM_000059.3:c.7976+10A>T , LRG_293t1:c.7976+10A>T NP_000050.2:n.7976+10A>T
XM_011535203.1:c.7976+10A>T XP_011533505.1:n.7976+10A>T
XM_011535204.1:c.7880+10A>T XP_011533506.1:n.7880+10A>T
XM_011535205.1:c.7976+10A>T XP_011533507.1:n.7976+10A>T
NM_000059.4:c.7976+10A>T MANE Select NP_000050.3:n.7976+10A>T