Canonical Allele Identifier: CA2082841656
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32380334G= , CM000675.2:g.32380334G= GRCh38
NC_000013.10:g.32954471G= , CM000675.1:g.32954471G= GRCh37
NC_000013.9:g.31852471G= NCBI36
NG_012772.3:g.69855G= , LRG_293:g.69855G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9256+189G= ENSP00000434898.2:n.9256+189G=
ENST00000528762.2:c.*623+189G= ENSP00000433168.2:n.*623+189G=
ENST00000530893.7:c.8887+189G= ENSP00000499438.2:n.8887+189G=
ENST00000665585.2:c.*818+189G= ENSP00000499570.2:n.*818+189G=
ENST00000666593.2:c.9256+189G= ENSP00000499256.2:n.9256+189G=
ENST00000700202.2:c.9205+189G= ENSP00000514856.2:n.9205+189G=
ENST00000700202.1:c.1672+189G= ENSP00000514856.1:n.1672+189G=
ENST00000700203.1:n.1383+189G=
ENST00000380152.8:c.9256+189G= MANE Select ENSP00000369497.3:n.9256+189G=
ENST00000544455.6:c.9256+189G= ENSP00000439902.1:n.9256+189G=
ENST00000614259.2:c.9264+189G= ENSP00000506251.1:n.9264+189G=
ENST00000665585.1:c.2134+189G=
ENST00000666593.1:c.139+189G= ENSP00000499256.1:n.139+189G=
ENST00000680887.1:c.9256+189G= ENSP00000505508.1:n.9256+189G=
ENST00000380152.7:c.9256+189G= ENSP00000369497.3:n.9256+189G=
ENST00000470094.1:c.213+189G=
ENST00000544455.5:c.9256+189G= ENSP00000439902.1:n.9256+189G=
NM_000059.3:c.9256+189G= , LRG_293t1:c.9256+189G= NP_000050.2:n.9256+189G=
XM_011535203.1:c.9256+189G= XP_011533505.1:n.9256+189G=
XM_011535204.1:c.9160+189G= XP_011533506.1:n.9160+189G=
NM_000059.4:c.9256+189G= MANE Select NP_000050.3:n.9256+189G=