Canonical Allele Identifier: CA387768152

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972797A>G (hg19) ; chr13:g.32398660A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398660A>G , CM000675.2:g.32398660A>G	GRCh38
NC_000013.10:g.32972797A>G , CM000675.1:g.32972797A>G	GRCh37
NC_000013.9:g.31870797A>G	NCBI36
NG_012772.3:g.88181A>G , LRG_293:g.88181A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*670A>G	ENSP00000434898.2:n.*670A>G
ENST00000528762.2:c.*1514A>G	ENSP00000433168.2:n.*1514A>G
ENST00000530893.7:c.9778A>G	ENSP00000499438.2:p.Lys3260Glu
ENST00000665585.2:c.*1709A>G	ENSP00000499570.2:n.*1709A>G
ENST00000700202.2:c.10096A>G	ENSP00000514856.2:p.Lys3366Glu
ENST00000700202.1:c.2563A>G	ENSP00000514856.1:p.Lys855Glu
ENST00000700203.1:n.2274A>G
ENST00000380152.8:c.10147A>G MANE Select	ENSP00000369497.3:p.Lys3383Glu
ENST00000544455.6:c.10147A>G	ENSP00000439902.1:p.Lys3383Glu
ENST00000614259.2:c.10155A>G	ENSP00000506251.1:n.10155A>G
ENST00000680887.1:c.10147A>G	ENSP00000505508.1:p.Lys3383Glu
ENST00000380152.7:c.10147A>G	ENSP00000369497.3:p.Lys3383Glu
ENST00000544455.5:c.10147A>G	ENSP00000439902.1:p.Lys3383Glu
NM_000059.3:c.10147A>G , LRG_293t1:c.10147A>G	NP_000050.2:p.Lys3383Glu
XM_011535203.1:c.10147A>G	XP_011533505.1:p.Lys3383Glu
XM_011535204.1:c.10051A>G	XP_011533506.1:p.Lys3351Glu
NM_000059.4:c.10147A>G MANE Select	NP_000050.3:p.Lys3383Glu