Canonical Allele Identifier: CA2082772346
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32315487G= , CM000675.2:g.32315487G= GRCh38
NC_000013.10:g.32889624G= , CM000675.1:g.32889624G= GRCh37
NC_000013.9:g.31787624G= NCBI36
NG_012772.3:g.5008G= , LRG_293:g.5008G=
NG_017006.1:g.1468C=
NG_017006.2:g.4877C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000544455.6:c.-40+342G= ENSP00000439902.1:n.-40+342G=
ENST00000380152.7:c.-220G= ENSP00000369497.3:n.-220G=
ENST00000544455.5:c.-220G= ENSP00000439902.1:n.-220G=
NM_000059.3:c.-220G= , LRG_293t1:c.-220G= NP_000050.2:n.-220G=
XM_011535203.1:c.-40+342G= XP_011533505.1:n.-40+342G=
XM_011535204.1:c.-220G= XP_011533506.1:n.-220G=
XM_011535205.1:c.-220G= XP_011533507.1:n.-220G=