Canonical Allele Identifier: CA10639302
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32399609T>C , CM000675.2:g.32399609T>C GRCh38
NC_000013.10:g.32973746T>C , CM000675.1:g.32973746T>C GRCh37
NC_000013.9:g.31871746T>C NCBI36
NG_012772.3:g.89130T>C , LRG_293:g.89130T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*1619T>C ENSP00000434898.2:n.*1619T>C
ENST00000530893.7:c.*839T>C ENSP00000499438.2:n.*839T>C
ENST00000380152.8:c.*839T>C MANE Select ENSP00000369497.3:n.*839T>C
ENST00000544455.6:c.*839T>C ENSP00000439902.1:n.*839T>C
ENST00000614259.2:c.11104T>C ENSP00000506251.1:n.11104T>C
ENST00000680887.1:c.*839T>C ENSP00000505508.1:n.*839T>C
ENST00000380152.7:c.*839T>C ENSP00000369497.3:n.*839T>C
ENST00000544455.5:c.*441T>C ENSP00000439902.1:n.*441T>C
NM_000059.3:c.*839T>C , LRG_293t1:c.*839T>C NP_000050.2:n.*839T>C
XM_011535203.1:c.*839T>C XP_011533505.1:n.*839T>C
XM_011535204.1:c.*839T>C XP_011533506.1:n.*839T>C
NM_000059.4:c.*839T>C MANE Select NP_000050.3:n.*839T>C