Canonical Allele Identifier: CA387767162

Gene: BRCA2

Linked Data

• gnomAD v4: 13-32398448-T-C
• MyVariant Identifiers: chr13:g.32972585T>C (hg19) ; chr13:g.32398448T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398448T>C , CM000675.2:g.32398448T>C	GRCh38
NC_000013.10:g.32972585T>C , CM000675.1:g.32972585T>C	GRCh37
NC_000013.9:g.31870585T>C	NCBI36
NG_012772.3:g.87969T>C , LRG_293:g.87969T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*458T>C	ENSP00000434898.2:n.*458T>C
ENST00000528762.2:c.*1302T>C	ENSP00000433168.2:n.*1302T>C
ENST00000530893.7:c.9566T>C	ENSP00000499438.2:p.Ile3189Thr
ENST00000665585.2:c.*1497T>C	ENSP00000499570.2:n.*1497T>C
ENST00000700202.2:c.9884T>C	ENSP00000514856.2:p.Ile3295Thr
ENST00000700202.1:c.2351T>C	ENSP00000514856.1:p.Ile784Thr
ENST00000700203.1:n.2062T>C
ENST00000380152.8:c.9935T>C MANE Select	ENSP00000369497.3:p.Ile3312Thr
ENST00000544455.6:c.9935T>C	ENSP00000439902.1:p.Ile3312Thr
ENST00000614259.2:c.9943T>C	ENSP00000506251.1:n.9943T>C
ENST00000680887.1:c.9935T>C	ENSP00000505508.1:p.Ile3312Thr
ENST00000380152.7:c.9935T>C	ENSP00000369497.3:p.Ile3312Thr
ENST00000533776.1:n.523T>C
ENST00000544455.5:c.9935T>C	ENSP00000439902.1:p.Ile3312Thr
NM_000059.3:c.9935T>C , LRG_293t1:c.9935T>C	NP_000050.2:p.Ile3312Thr
XM_011535203.1:c.9935T>C	XP_011533505.1:p.Ile3312Thr
XM_011535204.1:c.9839T>C	XP_011533506.1:p.Ile3280Thr
NM_000059.4:c.9935T>C MANE Select	NP_000050.3:p.Ile3312Thr