Canonical Allele Identifier: CA2082823202

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394797_32394799delinsCAA , CM000675.2:g.32394797_32394799delinsCAA	GRCh38
NC_000013.10:g.32968934_32968936delinsCAA , CM000675.1:g.32968934_32968936delinsCAA	GRCh37
NC_000013.9:g.31866934_31866936delinsCAA	NCBI36
NG_012772.3:g.84318_84320delinsCAA , LRG_293:g.84318_84320delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9365_9367delinsCAA	ENSP00000434898.2:p.Ala3122=
ENST00000528762.2:c.*732_*734delinsCAA	ENSP00000433168.2:n.*732_*734delinsCAA
ENST00000530893.7:c.8996_8998delinsCAA	ENSP00000499438.2:p.Ala2999=
ENST00000665585.2:c.*927_*929delinsCAA	ENSP00000499570.2:n.*927_*929delinsCAA
ENST00000666593.2:c.*210_*212delinsCAA	ENSP00000499256.2:n.*210_*212delinsCAA
ENST00000700202.2:c.9314_9316delinsCAA	ENSP00000514856.2:p.Ala3105=
ENST00000700202.1:c.1781_1783delinsCAA	ENSP00000514856.1:p.Ala594=
ENST00000700203.1:n.1492_1494delinsCAA
ENST00000380152.8:c.9365_9367delinsCAA MANE Select	ENSP00000369497.3:p.Ala3122=
ENST00000544455.6:c.9365_9367delinsCAA	ENSP00000439902.1:p.Ala3122=
ENST00000614259.2:c.9373_9375delinsCAA	ENSP00000506251.1:n.9373_9375delinsCAA
ENST00000665585.1:c.2243_2245delinsCAA
ENST00000666593.1:c.387_389delinsCAA	ENSP00000499256.1:n.387_389delinsCAA
ENST00000680887.1:c.9365_9367delinsCAA	ENSP00000505508.1:p.Ala3122=
ENST00000380152.7:c.9365_9367delinsCAA	ENSP00000369497.3:p.Ala3122=
ENST00000470094.1:c.322_324delinsCAA
ENST00000544455.5:c.9365_9367delinsCAA	ENSP00000439902.1:p.Ala3122=
NM_000059.3:c.9365_9367delinsCAA , LRG_293t1:c.9365_9367delinsCAA	NP_000050.2:p.Ala3122=
XM_011535203.1:c.9365_9367delinsCAA	XP_011533505.1:p.Ala3122=
XM_011535204.1:c.9269_9271delinsCAA	XP_011533506.1:p.Ala3090=
NM_000059.4:c.9365_9367delinsCAA MANE Select	NP_000050.3:p.Ala3122=