Canonical Allele Identifier: CA010492

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398734T>C , CM000675.2:g.32398734T>C	GRCh38
NC_000013.10:g.32972871T>C , CM000675.1:g.32972871T>C	GRCh37
NC_000013.9:g.31870871T>C	NCBI36
NG_012772.3:g.88255T>C , LRG_293:g.88255T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.10221T>C MANE Select	NP_000050.3:p.Asn3407=
ENST00000380152.8:c.10221T>C MANE Select	ENSP00000369497.3:p.Asn3407=
NM_000059.3:c.10221T>C , LRG_293t1:c.10221T>C	NP_000050.2:p.Asn3407=
ENST00000380152.7:c.10221T>C	ENSP00000369497.3:p.Asn3407=
ENST00000470094.2:c.*744T>C	ENSP00000434898.2:n.*744T>C
ENST00000528762.2:c.*1588T>C	ENSP00000433168.2:n.*1588T>C
ENST00000530893.7:c.9852T>C	ENSP00000499438.2:p.Asn3284=
ENST00000544455.5:c.10221T>C	ENSP00000439902.1:p.Asn3407=
ENST00000544455.6:c.10221T>C	ENSP00000439902.1:p.Asn3407=
ENST00000614259.2:c.10229T>C	ENSP00000506251.1:n.10229T>C
ENST00000665585.2:c.*1783T>C	ENSP00000499570.2:n.*1783T>C
ENST00000680887.1:c.10221T>C	ENSP00000505508.1:p.Asn3407=
ENST00000700202.1:c.2637T>C	ENSP00000514856.1:p.Asn879=
ENST00000700202.2:c.10170T>C	ENSP00000514856.2:p.Asn3390=
ENST00000700203.1:n.2348T>C
XM_011535203.1:c.10221T>C	XP_011533505.1:p.Asn3407=
XM_011535204.1:c.10125T>C	XP_011533506.1:p.Asn3375=