Canonical Allele Identifier: CA387765983
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2137663832

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398301A>G , CM000675.2:g.32398301A>G GRCh38
NC_000013.10:g.32972438A>G , CM000675.1:g.32972438A>G GRCh37
NC_000013.9:g.31870438A>G NCBI36
NG_012772.3:g.87822A>G , LRG_293:g.87822A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*311A>G ENSP00000434898.2:n.*311A>G
ENST00000528762.2:c.*1155A>G ENSP00000433168.2:n.*1155A>G
ENST00000530893.7:c.9419A>G ENSP00000499438.2:p.Lys3140Arg
ENST00000665585.2:c.*1350A>G ENSP00000499570.2:n.*1350A>G
ENST00000700202.2:c.9737A>G ENSP00000514856.2:p.Lys3246Arg
ENST00000700202.1:c.2204A>G ENSP00000514856.1:p.Lys735Arg
ENST00000700203.1:n.1915A>G
ENST00000380152.8:c.9788A>G MANE Select ENSP00000369497.3:p.Lys3263Arg
ENST00000544455.6:c.9788A>G ENSP00000439902.1:p.Lys3263Arg
ENST00000614259.2:c.9796A>G ENSP00000506251.1:n.9796A>G
ENST00000680887.1:c.9788A>G ENSP00000505508.1:p.Lys3263Arg
ENST00000380152.7:c.9788A>G ENSP00000369497.3:p.Lys3263Arg
ENST00000533776.1:n.376A>G
ENST00000544455.5:c.9788A>G ENSP00000439902.1:p.Lys3263Arg
NM_000059.3:c.9788A>G , LRG_293t1:c.9788A>G NP_000050.2:p.Lys3263Arg
XM_011535203.1:c.9788A>G XP_011533505.1:p.Lys3263Arg
XM_011535204.1:c.9692A>G XP_011533506.1:p.Lys3231Arg
NM_000059.4:c.9788A>G MANE Select NP_000050.3:p.Lys3263Arg