Canonical Allele Identifier: CA387766902
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs770868371

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398411C>G , CM000675.2:g.32398411C>G GRCh38
NC_000013.10:g.32972548C>G , CM000675.1:g.32972548C>G GRCh37
NC_000013.9:g.31870548C>G NCBI36
NG_012772.3:g.87932C>G , LRG_293:g.87932C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*421C>G ENSP00000434898.2:n.*421C>G
ENST00000528762.2:c.*1265C>G ENSP00000433168.2:n.*1265C>G
ENST00000530893.7:c.9529C>G ENSP00000499438.2:p.Pro3177Ala
ENST00000665585.2:c.*1460C>G ENSP00000499570.2:n.*1460C>G
ENST00000700202.2:c.9847C>G ENSP00000514856.2:p.Pro3283Ala
ENST00000700202.1:c.2314C>G ENSP00000514856.1:p.Pro772Ala
ENST00000700203.1:n.2025C>G
ENST00000380152.8:c.9898C>G MANE Select ENSP00000369497.3:p.Pro3300Ala
ENST00000544455.6:c.9898C>G ENSP00000439902.1:p.Pro3300Ala
ENST00000614259.2:c.9906C>G ENSP00000506251.1:n.9906C>G
ENST00000680887.1:c.9898C>G ENSP00000505508.1:p.Pro3300Ala
ENST00000380152.7:c.9898C>G ENSP00000369497.3:p.Pro3300Ala
ENST00000533776.1:n.486C>G
ENST00000544455.5:c.9898C>G ENSP00000439902.1:p.Pro3300Ala
NM_000059.3:c.9898C>G , LRG_293t1:c.9898C>G NP_000050.2:p.Pro3300Ala
XM_011535203.1:c.9898C>G XP_011533505.1:p.Pro3300Ala
XM_011535204.1:c.9802C>G XP_011533506.1:p.Pro3268Ala
NM_000059.4:c.9898C>G MANE Select NP_000050.3:p.Pro3300Ala