Canonical Allele Identifier: CA2727946072
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2137670273

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32399182A>T , CM000675.2:g.32399182A>T GRCh38
NC_000013.10:g.32973319A>T , CM000675.1:g.32973319A>T GRCh37
NC_000013.9:g.31871319A>T NCBI36
NG_012772.3:g.88703A>T , LRG_293:g.88703A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.*1192A>T ENSP00000434898.2:n.*1192A>T
ENST00000530893.7:c.*412A>T ENSP00000499438.2:n.*412A>T
ENST00000380152.8:c.*412A>T MANE Select ENSP00000369497.3:n.*412A>T
ENST00000544455.6:c.*412A>T ENSP00000439902.1:n.*412A>T
ENST00000614259.2:c.10677A>T ENSP00000506251.1:n.10677A>T
ENST00000680887.1:c.*412A>T ENSP00000505508.1:n.*412A>T
ENST00000380152.7:c.*412A>T ENSP00000369497.3:n.*412A>T
ENST00000544455.5:c.*412A>T ENSP00000439902.1:n.*412A>T
NM_000059.3:c.*412A>T , LRG_293t1:c.*412A>T NP_000050.2:n.*412A>T
XM_011535203.1:c.*412A>T XP_011533505.1:n.*412A>T
XM_011535204.1:c.*412A>T XP_011533506.1:n.*412A>T
NM_000059.4:c.*412A>T MANE Select NP_000050.3:n.*412A>T