Canonical Allele Identifier: CA483440543

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972790C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398653C>A , CM000675.2:g.32398653C>A	GRCh38
NC_000013.10:g.32972790C>A , CM000675.1:g.32972790C>A	GRCh37
NC_000013.9:g.31870790C>A	NCBI36
NG_012772.3:g.88174C>A , LRG_293:g.88174C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*663C>A	ENSP00000434898.2:n.*663C>A
ENST00000528762.2:c.*1507C>A	ENSP00000433168.2:n.*1507C>A
ENST00000530893.7:c.9771C>A	ENSP00000499438.2:p.Leu3257=
ENST00000665585.2:c.*1702C>A	ENSP00000499570.2:n.*1702C>A
ENST00000700202.2:c.10089C>A	ENSP00000514856.2:p.Leu3363=
ENST00000700202.1:c.2556C>A	ENSP00000514856.1:p.Leu852=
ENST00000700203.1:n.2267C>A
ENST00000380152.8:c.10140C>A MANE Select	ENSP00000369497.3:p.Leu3380=
ENST00000544455.6:c.10140C>A	ENSP00000439902.1:p.Leu3380=
ENST00000614259.2:c.10148C>A	ENSP00000506251.1:n.10148C>A
ENST00000680887.1:c.10140C>A	ENSP00000505508.1:p.Leu3380=
ENST00000380152.7:c.10140C>A	ENSP00000369497.3:p.Leu3380=
ENST00000544455.5:c.10140C>A	ENSP00000439902.1:p.Leu3380=
NM_000059.3:c.10140C>A , LRG_293t1:c.10140C>A	NP_000050.2:p.Leu3380=
XM_011535203.1:c.10140C>A	XP_011533505.1:p.Leu3380=
XM_011535204.1:c.10044C>A	XP_011533506.1:p.Leu3348=
NM_000059.4:c.10140C>A MANE Select	NP_000050.3:p.Leu3380=