Canonical Allele Identifier: CA387768153
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2137667110

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398660A>T , CM000675.2:g.32398660A>T GRCh38
NC_000013.10:g.32972797A>T , CM000675.1:g.32972797A>T GRCh37
NC_000013.9:g.31870797A>T NCBI36
NG_012772.3:g.88181A>T , LRG_293:g.88181A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.*670A>T ENSP00000434898.2:n.*670A>T
ENST00000528762.2:c.*1514A>T ENSP00000433168.2:n.*1514A>T
ENST00000530893.7:c.9778A>T ENSP00000499438.2:p.Lys3260Ter
ENST00000665585.2:c.*1709A>T ENSP00000499570.2:n.*1709A>T
ENST00000700202.2:c.10096A>T ENSP00000514856.2:p.Lys3366Ter
ENST00000700202.1:c.2563A>T ENSP00000514856.1:p.Lys855Ter
ENST00000700203.1:n.2274A>T
ENST00000380152.8:c.10147A>T MANE Select ENSP00000369497.3:p.Lys3383Ter
ENST00000544455.6:c.10147A>T ENSP00000439902.1:p.Lys3383Ter
ENST00000614259.2:c.10155A>T ENSP00000506251.1:n.10155A>T
ENST00000680887.1:c.10147A>T ENSP00000505508.1:p.Lys3383Ter
ENST00000380152.7:c.10147A>T ENSP00000369497.3:p.Lys3383Ter
ENST00000544455.5:c.10147A>T ENSP00000439902.1:p.Lys3383Ter
NM_000059.3:c.10147A>T , LRG_293t1:c.10147A>T NP_000050.2:p.Lys3383Ter
XM_011535203.1:c.10147A>T XP_011533505.1:p.Lys3383Ter
XM_011535204.1:c.10051A>T XP_011533506.1:p.Lys3351Ter
NM_000059.4:c.10147A>T MANE Select NP_000050.3:p.Lys3383Ter