Canonical Allele Identifier: CA483439929
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2137663068
MyVariant Identifiers: chr13:g.32972358A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398221A>G , CM000675.2:g.32398221A>G GRCh38
NC_000013.10:g.32972358A>G , CM000675.1:g.32972358A>G GRCh37
NC_000013.9:g.31870358A>G NCBI36
NG_012772.3:g.87742A>G , LRG_293:g.87742A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*231A>G ENSP00000434898.2:n.*231A>G
ENST00000528762.2:c.*1075A>G ENSP00000433168.2:n.*1075A>G
ENST00000530893.7:c.9339A>G ENSP00000499438.2:p.Lys3113=
ENST00000665585.2:c.*1270A>G ENSP00000499570.2:n.*1270A>G
ENST00000700202.2:c.9657A>G ENSP00000514856.2:p.Lys3219=
ENST00000700202.1:c.2124A>G ENSP00000514856.1:p.Lys708=
ENST00000700203.1:n.1835A>G
ENST00000380152.8:c.9708A>G MANE Select ENSP00000369497.3:p.Lys3236=
ENST00000544455.6:c.9708A>G ENSP00000439902.1:p.Lys3236=
ENST00000614259.2:c.9716A>G ENSP00000506251.1:n.9716A>G
ENST00000665585.1:c.2586A>G
ENST00000680887.1:c.9708A>G ENSP00000505508.1:p.Lys3236=
ENST00000380152.7:c.9708A>G ENSP00000369497.3:p.Lys3236=
ENST00000470094.1:c.791A>G
ENST00000533776.1:n.296A>G
ENST00000544455.5:c.9708A>G ENSP00000439902.1:p.Lys3236=
NM_000059.3:c.9708A>G , LRG_293t1:c.9708A>G NP_000050.2:p.Lys3236=
XM_011535203.1:c.9708A>G XP_011533505.1:p.Lys3236=
XM_011535204.1:c.9612A>G XP_011533506.1:p.Lys3204=
NM_000059.4:c.9708A>G MANE Select NP_000050.3:p.Lys3236=