Canonical Allele Identifier: CA2695217830

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398246_32398247dup , CM000675.2:g.32398246_32398247dup	GRCh38
NC_000013.10:g.32972383_32972384dup , CM000675.1:g.32972383_32972384dup	GRCh37
NC_000013.9:g.31870383_31870384dup	NCBI36
NG_012772.3:g.87767_87768dup , LRG_293:g.87767_87768dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*256_*257dup	ENSP00000434898.2:n.*256_*257dup
ENST00000528762.2:c.*1100_*1101dup	ENSP00000433168.2:n.*1100_*1101dup
ENST00000530893.7:c.9364_9365dup	ENSP00000499438.2:p.Ala3123GlnfsTer4
ENST00000665585.2:c.*1295_*1296dup	ENSP00000499570.2:n.*1295_*1296dup
ENST00000700202.2:c.9682_9683dup	ENSP00000514856.2:p.Ala3229GlnfsTer4
ENST00000700202.1:c.2149_2150dup	ENSP00000514856.1:p.Ala718GlnfsTer4
ENST00000700203.1:n.1860_1861dup
ENST00000380152.8:c.9733_9734dup MANE Select	ENSP00000369497.3:p.Ala3246GlnfsTer4
ENST00000544455.6:c.9733_9734dup	ENSP00000439902.1:p.Ala3246GlnfsTer4
ENST00000614259.2:c.9741_9742dup	ENSP00000506251.1:n.9741_9742dup
ENST00000680887.1:c.9733_9734dup	ENSP00000505508.1:p.Ala3246GlnfsTer4
ENST00000380152.7:c.9733_9734dup	ENSP00000369497.3:p.Ala3246GlnfsTer4
ENST00000470094.1:c.816_817dup
ENST00000533776.1:n.321_322dup
ENST00000544455.5:c.9733_9734dup	ENSP00000439902.1:p.Ala3246GlnfsTer4
NM_000059.3:c.9733_9734dup , LRG_293t1:c.9733_9734dup	NP_000050.2:p.Ala3246GlnfsTer4
XM_011535203.1:c.9733_9734dup	XP_011533505.1:p.Ala3246GlnfsTer4
XM_011535204.1:c.9637_9638dup	XP_011533506.1:p.Ala3214GlnfsTer4
NM_000059.4:c.9733_9734dup MANE Select	NP_000050.3:p.Ala3246GlnfsTer4