Canonical Allele Identifier: CA387765700

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137663495
• MyVariant Identifiers: chr13:g.32972402A>G (hg19) ; chr13:g.32398265A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398265A>G , CM000675.2:g.32398265A>G	GRCh38
NC_000013.10:g.32972402A>G , CM000675.1:g.32972402A>G	GRCh37
NC_000013.9:g.31870402A>G	NCBI36
NG_012772.3:g.87786A>G , LRG_293:g.87786A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*275A>G	ENSP00000434898.2:n.*275A>G
ENST00000528762.2:c.*1119A>G	ENSP00000433168.2:n.*1119A>G
ENST00000530893.7:c.9383A>G	ENSP00000499438.2:p.Lys3128Arg
ENST00000665585.2:c.*1314A>G	ENSP00000499570.2:n.*1314A>G
ENST00000700202.2:c.9701A>G	ENSP00000514856.2:p.Lys3234Arg
ENST00000700202.1:c.2168A>G	ENSP00000514856.1:p.Lys723Arg
ENST00000700203.1:n.1879A>G
ENST00000380152.8:c.9752A>G MANE Select	ENSP00000369497.3:p.Lys3251Arg
ENST00000544455.6:c.9752A>G	ENSP00000439902.1:p.Lys3251Arg
ENST00000614259.2:c.9760A>G	ENSP00000506251.1:n.9760A>G
ENST00000680887.1:c.9752A>G	ENSP00000505508.1:p.Lys3251Arg
ENST00000380152.7:c.9752A>G	ENSP00000369497.3:p.Lys3251Arg
ENST00000470094.1:c.835A>G
ENST00000533776.1:n.340A>G
ENST00000544455.5:c.9752A>G	ENSP00000439902.1:p.Lys3251Arg
NM_000059.3:c.9752A>G , LRG_293t1:c.9752A>G	NP_000050.2:p.Lys3251Arg
XM_011535203.1:c.9752A>G	XP_011533505.1:p.Lys3251Arg
XM_011535204.1:c.9656A>G	XP_011533506.1:p.Lys3219Arg
NM_000059.4:c.9752A>G MANE Select	NP_000050.3:p.Lys3251Arg