Canonical Allele Identifier: CA387767937
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 938904
ClinVar RCV Id: RCV001208206
dbSNP Id: rs1593202272

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398596A>C , CM000675.2:g.32398596A>C GRCh38
NC_000013.10:g.32972733A>C , CM000675.1:g.32972733A>C GRCh37
NC_000013.9:g.31870733A>C NCBI36
NG_012772.3:g.88117A>C , LRG_293:g.88117A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*606A>C ENSP00000434898.2:n.*606A>C
ENST00000528762.2:c.*1450A>C ENSP00000433168.2:n.*1450A>C
ENST00000530893.7:c.9714A>C ENSP00000499438.2:p.Gln3238His
ENST00000665585.2:c.*1645A>C ENSP00000499570.2:n.*1645A>C
ENST00000700202.2:c.10032A>C ENSP00000514856.2:p.Gln3344His
ENST00000700202.1:c.2499A>C ENSP00000514856.1:p.Gln833His
ENST00000700203.1:n.2210A>C
ENST00000380152.8:c.10083A>C MANE Select ENSP00000369497.3:p.Gln3361His
ENST00000544455.6:c.10083A>C ENSP00000439902.1:p.Gln3361His
ENST00000614259.2:c.10091A>C ENSP00000506251.1:n.10091A>C
ENST00000680887.1:c.10083A>C ENSP00000505508.1:p.Gln3361His
ENST00000380152.7:c.10083A>C ENSP00000369497.3:p.Gln3361His
ENST00000544455.5:c.10083A>C ENSP00000439902.1:p.Gln3361His
NM_000059.3:c.10083A>C , LRG_293t1:c.10083A>C NP_000050.2:p.Gln3361His
XM_011535203.1:c.10083A>C XP_011533505.1:p.Gln3361His
XM_011535204.1:c.9987A>C XP_011533506.1:p.Gln3329His
NM_000059.4:c.10083A>C MANE Select NP_000050.3:p.Gln3361His