Canonical Allele Identifier: CA387767609

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972641A>C (hg19) ; chr13:g.32398504A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398504A>C , CM000675.2:g.32398504A>C	GRCh38
NC_000013.10:g.32972641A>C , CM000675.1:g.32972641A>C	GRCh37
NC_000013.9:g.31870641A>C	NCBI36
NG_012772.3:g.88025A>C , LRG_293:g.88025A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*514A>C	ENSP00000434898.2:n.*514A>C
ENST00000528762.2:c.*1358A>C	ENSP00000433168.2:n.*1358A>C
ENST00000530893.7:c.9622A>C	ENSP00000499438.2:p.Ile3208Leu
ENST00000665585.2:c.*1553A>C	ENSP00000499570.2:n.*1553A>C
ENST00000700202.2:c.9940A>C	ENSP00000514856.2:p.Ile3314Leu
ENST00000700202.1:c.2407A>C	ENSP00000514856.1:p.Ile803Leu
ENST00000700203.1:n.2118A>C
ENST00000380152.8:c.9991A>C MANE Select	ENSP00000369497.3:p.Ile3331Leu
ENST00000544455.6:c.9991A>C	ENSP00000439902.1:p.Ile3331Leu
ENST00000614259.2:c.9999A>C	ENSP00000506251.1:n.9999A>C
ENST00000680887.1:c.9991A>C	ENSP00000505508.1:p.Ile3331Leu
ENST00000380152.7:c.9991A>C	ENSP00000369497.3:p.Ile3331Leu
ENST00000544455.5:c.9991A>C	ENSP00000439902.1:p.Ile3331Leu
NM_000059.3:c.9991A>C , LRG_293t1:c.9991A>C	NP_000050.2:p.Ile3331Leu
XM_011535203.1:c.9991A>C	XP_011533505.1:p.Ile3331Leu
XM_011535204.1:c.9895A>C	XP_011533506.1:p.Ile3299Leu
NM_000059.4:c.9991A>C MANE Select	NP_000050.3:p.Ile3331Leu