Canonical Allele Identifier: CA697351503
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32399302A>T , CM000675.2:g.32399302A>T GRCh38
NC_000013.10:g.32973439A>T , CM000675.1:g.32973439A>T GRCh37
NC_000013.9:g.31871439A>T NCBI36
NG_012772.3:g.88823A>T , LRG_293:g.88823A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*1312A>T ENSP00000434898.2:n.*1312A>T
ENST00000530893.7:c.*532A>T ENSP00000499438.2:n.*532A>T
ENST00000380152.8:c.*532A>T MANE Select ENSP00000369497.3:n.*532A>T
ENST00000544455.6:c.*532A>T ENSP00000439902.1:n.*532A>T
ENST00000614259.2:c.10797A>T ENSP00000506251.1:n.10797A>T
ENST00000680887.1:c.*532A>T ENSP00000505508.1:n.*532A>T
ENST00000380152.7:c.*532A>T ENSP00000369497.3:n.*532A>T
ENST00000544455.5:c.*440+92A>T ENSP00000439902.1:n.*440+92A>T
NM_000059.3:c.*532A>T , LRG_293t1:c.*532A>T NP_000050.2:n.*532A>T
XM_011535203.1:c.*532A>T XP_011533505.1:n.*532A>T
XM_011535204.1:c.*532A>T XP_011533506.1:n.*532A>T
NM_000059.4:c.*532A>T MANE Select NP_000050.3:n.*532A>T