Canonical Allele Identifier: CA483440173
Gene: BRCA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.32972490T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398353T>G , CM000675.2:g.32398353T>G GRCh38
NC_000013.10:g.32972490T>G , CM000675.1:g.32972490T>G GRCh37
NC_000013.9:g.31870490T>G NCBI36
NG_012772.3:g.87874T>G , LRG_293:g.87874T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*363T>G ENSP00000434898.2:n.*363T>G
ENST00000528762.2:c.*1207T>G ENSP00000433168.2:n.*1207T>G
ENST00000530893.7:c.9471T>G ENSP00000499438.2:p.Pro3157=
ENST00000665585.2:c.*1402T>G ENSP00000499570.2:n.*1402T>G
ENST00000700202.2:c.9789T>G ENSP00000514856.2:p.Pro3263=
ENST00000700202.1:c.2256T>G ENSP00000514856.1:p.Pro752=
ENST00000700203.1:n.1967T>G
ENST00000380152.8:c.9840T>G MANE Select ENSP00000369497.3:p.Pro3280=
ENST00000544455.6:c.9840T>G ENSP00000439902.1:p.Pro3280=
ENST00000614259.2:c.9848T>G ENSP00000506251.1:n.9848T>G
ENST00000680887.1:c.9840T>G ENSP00000505508.1:p.Pro3280=
ENST00000380152.7:c.9840T>G ENSP00000369497.3:p.Pro3280=
ENST00000533776.1:n.428T>G
ENST00000544455.5:c.9840T>G ENSP00000439902.1:p.Pro3280=
NM_000059.3:c.9840T>G , LRG_293t1:c.9840T>G NP_000050.2:p.Pro3280=
XM_011535203.1:c.9840T>G XP_011533505.1:p.Pro3280=
XM_011535204.1:c.9744T>G XP_011533506.1:p.Pro3248=
NM_000059.4:c.9840T>G MANE Select NP_000050.3:p.Pro3280=