Canonical Allele Identifier: CA387766045

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972447A>G (hg19) ; chr13:g.32398310A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398310A>G , CM000675.2:g.32398310A>G	GRCh38
NC_000013.10:g.32972447A>G , CM000675.1:g.32972447A>G	GRCh37
NC_000013.9:g.31870447A>G	NCBI36
NG_012772.3:g.87831A>G , LRG_293:g.87831A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*320A>G	ENSP00000434898.2:n.*320A>G
ENST00000528762.2:c.*1164A>G	ENSP00000433168.2:n.*1164A>G
ENST00000530893.7:c.9428A>G	ENSP00000499438.2:p.Lys3143Arg
ENST00000665585.2:c.*1359A>G	ENSP00000499570.2:n.*1359A>G
ENST00000700202.2:c.9746A>G	ENSP00000514856.2:p.Lys3249Arg
ENST00000700202.1:c.2213A>G	ENSP00000514856.1:p.Lys738Arg
ENST00000700203.1:n.1924A>G
ENST00000380152.8:c.9797A>G MANE Select	ENSP00000369497.3:p.Lys3266Arg
ENST00000544455.6:c.9797A>G	ENSP00000439902.1:p.Lys3266Arg
ENST00000614259.2:c.9805A>G	ENSP00000506251.1:n.9805A>G
ENST00000680887.1:c.9797A>G	ENSP00000505508.1:p.Lys3266Arg
ENST00000380152.7:c.9797A>G	ENSP00000369497.3:p.Lys3266Arg
ENST00000533776.1:n.385A>G
ENST00000544455.5:c.9797A>G	ENSP00000439902.1:p.Lys3266Arg
NM_000059.3:c.9797A>G , LRG_293t1:c.9797A>G	NP_000050.2:p.Lys3266Arg
XM_011535203.1:c.9797A>G	XP_011533505.1:p.Lys3266Arg
XM_011535204.1:c.9701A>G	XP_011533506.1:p.Lys3234Arg
NM_000059.4:c.9797A>G MANE Select	NP_000050.3:p.Lys3266Arg