Canonical Allele Identifier: CA2727920361
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2137659899

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32397048A>T , CM000675.2:g.32397048A>T GRCh38
NC_000013.10:g.32971185A>T , CM000675.1:g.32971185A>T GRCh37
NC_000013.9:g.31869185A>T NCBI36
NG_012772.3:g.86569A>T , LRG_293:g.86569A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.*171+4A>T ENSP00000434898.2:n.*171+4A>T
ENST00000528762.2:c.*1015+4A>T ENSP00000433168.2:n.*1015+4A>T
ENST00000530893.7:c.9279+4A>T ENSP00000499438.2:n.9279+4A>T
ENST00000665585.2:c.*1210+4A>T ENSP00000499570.2:n.*1210+4A>T
ENST00000700202.2:c.9597+4A>T ENSP00000514856.2:n.9597+4A>T
ENST00000700202.1:c.2064+4A>T ENSP00000514856.1:n.2064+4A>T
ENST00000700203.1:n.1775+4A>T
ENST00000380152.8:c.9648+4A>T MANE Select ENSP00000369497.3:n.9648+4A>T
ENST00000544455.6:c.9648+4A>T ENSP00000439902.1:n.9648+4A>T
ENST00000614259.2:c.9656+4A>T ENSP00000506251.1:n.9656+4A>T
ENST00000665585.1:c.2526+4A>T
ENST00000680887.1:c.9648+4A>T ENSP00000505508.1:n.9648+4A>T
ENST00000380152.7:c.9648+4A>T ENSP00000369497.3:n.9648+4A>T
ENST00000470094.1:c.731+4A>T
ENST00000533776.1:n.236+4A>T
ENST00000544455.5:c.9648+4A>T ENSP00000439902.1:n.9648+4A>T
NM_000059.3:c.9648+4A>T , LRG_293t1:c.9648+4A>T NP_000050.2:n.9648+4A>T
XM_011535203.1:c.9648+4A>T XP_011533505.1:n.9648+4A>T
XM_011535204.1:c.9552+4A>T XP_011533506.1:n.9552+4A>T
NM_000059.4:c.9648+4A>T MANE Select NP_000050.3:n.9648+4A>T