Canonical Allele Identifier: CA2575387790
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2137464586

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32332224T>C , CM000675.2:g.32332224T>C GRCh38
NC_000013.10:g.32906361T>C , CM000675.1:g.32906361T>C GRCh37
NC_000013.9:g.31804361T>C NCBI36
NG_012772.3:g.21745T>C , LRG_293:g.21745T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.794-48T>C ENSP00000434898.2:n.794-48T>C
ENST00000528762.2:c.794-48T>C ENSP00000433168.2:n.794-48T>C
ENST00000530893.7:c.425-48T>C ENSP00000499438.2:n.425-48T>C
ENST00000665585.2:c.794-48T>C ENSP00000499570.2:n.794-48T>C
ENST00000666593.2:c.794-48T>C ENSP00000499256.2:n.794-48T>C
ENST00000700202.2:c.794-48T>C ENSP00000514856.2:n.794-48T>C
ENST00000700201.1:c.*573-48T>C ENSP00000514855.1:n.*573-48T>C
ENST00000380152.8:c.794-48T>C MANE Select ENSP00000369497.3:n.794-48T>C
ENST00000544455.6:c.794-48T>C ENSP00000439902.1:n.794-48T>C
ENST00000614259.2:c.794-48T>C ENSP00000506251.1:n.794-48T>C
ENST00000680887.1:c.794-48T>C ENSP00000505508.1:n.794-48T>C
ENST00000380152.7:c.794-48T>C ENSP00000369497.3:n.794-48T>C
ENST00000530893.6:n.992-48T>C
ENST00000544455.5:c.794-48T>C ENSP00000439902.1:n.794-48T>C
ENST00000614259.1:n.794-48T>C
NM_000059.3:c.794-48T>C , LRG_293t1:c.794-48T>C NP_000050.2:n.794-48T>C
XM_011535203.1:c.794-48T>C XP_011533505.1:n.794-48T>C
XM_011535204.1:c.794-48T>C XP_011533506.1:n.794-48T>C
XM_011535205.1:c.794-48T>C XP_011533507.1:n.794-48T>C
NM_000059.4:c.794-48T>C MANE Select NP_000050.3:n.794-48T>C