Canonical Allele Identifier: CA2551825895

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398590_32398591insTTCAGTTCTTTTTTCTTT , CM000675.2:g.32398590_32398591insTTCAGTTCTTTTTTCTTT	GRCh38
NC_000013.10:g.32972727_32972728insTTCAGTTCTTTTTTCTTT , CM000675.1:g.32972727_32972728insTTCAGTTCTTTTTTCTTT	GRCh37
NC_000013.9:g.31870727_31870728insTTCAGTTCTTTTTTCTTT	NCBI36
NG_012772.3:g.88111_88112insTTCAGTTCTTTTTTCTTT , LRG_293:g.88111_88112insTTCAGTTCTTTTTTCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*600_*601insTTCAGTTCTTTTTTCTTT	ENSP00000434898.2:n.*600_*601insTTCAGTTCTTTTTTCTTT
ENST00000528762.2:c.*1444_*1445insTTCAGTTCTTTTTTCTTT	ENSP00000433168.2:n.*1444_*1445insTTCAGTTCTTTTTTCTTT
ENST00000530893.7:c.9708_9709insTTCAGTTCTTTTTTCTTT	ENSP00000499438.2:p.Glu3236_Lys3237insPheSerSerPhePhePhe
ENST00000665585.2:c.*1639_*1640insTTCAGTTCTTTTTTCTTT	ENSP00000499570.2:n.*1639_*1640insTTCAGTTCTTTTTTCTTT
ENST00000700202.2:c.10026_10027insTTCAGTTCTTTTTTCTTT	ENSP00000514856.2:p.Glu3342_Lys3343insPheSerSerPhePhePhe
ENST00000700202.1:c.2493_2494insTTCAGTTCTTTTTTCTTT	ENSP00000514856.1:p.Glu831_Lys832insPheSerSerPhePhePhe
ENST00000700203.1:n.2204_2205insTTCAGTTCTTTTTTCTTT
ENST00000380152.8:c.10077_10078insTTCAGTTCTTTTTTCTTT MANE Select	ENSP00000369497.3:p.Glu3359_Lys3360insPheSerSerPhePhePhe
ENST00000544455.6:c.10077_10078insTTCAGTTCTTTTTTCTTT	ENSP00000439902.1:p.Glu3359_Lys3360insPheSerSerPhePhePhe
ENST00000614259.2:c.10085_10086insTTCAGTTCTTTTTTCTTT	ENSP00000506251.1:n.10085_10086insTTCAGTTCTTTTTTCTTT
ENST00000680887.1:c.10077_10078insTTCAGTTCTTTTTTCTTT	ENSP00000505508.1:p.Glu3359_Lys3360insPheSerSerPhePhePhe
ENST00000380152.7:c.10077_10078insTTCAGTTCTTTTTTCTTT	ENSP00000369497.3:p.Glu3359_Lys3360insPheSerSerPhePhePhe
ENST00000544455.5:c.10077_10078insTTCAGTTCTTTTTTCTTT	ENSP00000439902.1:p.Glu3359_Lys3360insPheSerSerPhePhePhe
NM_000059.3:c.10077_10078insTTCAGTTCTTTTTTCTTT , LRG_293t1:c.10077_10078insTTCAGTTCTTTTTTCTTT	NP_000050.2:p.Glu3359_Lys3360insPheSerSerPhePhePhe
XM_011535203.1:c.10077_10078insTTCAGTTCTTTTTTCTTT	XP_011533505.1:p.Glu3359_Lys3360insPheSerSerPhePhePhe
XM_011535204.1:c.9981_9982insTTCAGTTCTTTTTTCTTT	XP_011533506.1:p.Glu3327_Lys3328insPheSerSerPhePhePhe
NM_000059.4:c.10077_10078insTTCAGTTCTTTTTTCTTT MANE Select	NP_000050.3:p.Glu3359_Lys3360insPheSerSerPhePhePhe