Canonical Allele Identifier: CA2727916225
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2137613679

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376808A>T , CM000675.2:g.32376808A>T GRCh38
NC_000013.10:g.32950945A>T , CM000675.1:g.32950945A>T GRCh37
NC_000013.9:g.31848945A>T NCBI36
NG_012772.3:g.66329A>T , LRG_293:g.66329A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8754+17A>T ENSP00000434898.2:n.8754+17A>T
ENST00000528762.2:c.*121+17A>T ENSP00000433168.2:n.*121+17A>T
ENST00000530893.7:c.8385+17A>T ENSP00000499438.2:n.8385+17A>T
ENST00000665585.2:c.*316+17A>T ENSP00000499570.2:n.*316+17A>T
ENST00000666593.2:c.8754+17A>T ENSP00000499256.2:n.8754+17A>T
ENST00000700202.2:c.8754+17A>T ENSP00000514856.2:n.8754+17A>T
ENST00000700202.1:c.1221+17A>T ENSP00000514856.1:n.1221+17A>T
ENST00000700203.1:n.881+17A>T
ENST00000380152.8:c.8754+17A>T MANE Select ENSP00000369497.3:n.8754+17A>T
ENST00000544455.6:c.8754+17A>T ENSP00000439902.1:n.8754+17A>T
ENST00000614259.2:c.8762+17A>T ENSP00000506251.1:n.8762+17A>T
ENST00000665585.1:c.1632+17A>T
ENST00000680887.1:c.8754+17A>T ENSP00000505508.1:n.8754+17A>T
ENST00000380152.7:c.8754+17A>T ENSP00000369497.3:n.8754+17A>T
ENST00000528762.1:c.316+17A>T ENSP00000433168.1:n.316+17A>T
ENST00000544455.5:c.8754+17A>T ENSP00000439902.1:n.8754+17A>T
NM_000059.3:c.8754+17A>T , LRG_293t1:c.8754+17A>T NP_000050.2:n.8754+17A>T
XM_011535203.1:c.8754+17A>T XP_011533505.1:n.8754+17A>T
XM_011535204.1:c.8658+17A>T XP_011533506.1:n.8658+17A>T
XM_011535205.1:c.8754+17A>T XP_011533507.1:n.8754+17A>T
NM_000059.4:c.8754+17A>T MANE Select NP_000050.3:n.8754+17A>T