Canonical Allele Identifier: CA2082823075

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394786_32394790delinsGTTAA , CM000675.2:g.32394786_32394790delinsGTTAA	GRCh38
NC_000013.10:g.32968923_32968927delinsGTTAA , CM000675.1:g.32968923_32968927delinsGTTAA	GRCh37
NC_000013.9:g.31866923_31866927delinsGTTAA	NCBI36
NG_012772.3:g.84307_84311delinsGTTAA , LRG_293:g.84307_84311delinsGTTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9354_9358delinsGTTAA	ENSP00000434898.2:p.Met3118=
ENST00000528762.2:c.*721_*725delinsGTTAA	ENSP00000433168.2:n.*721_*725delinsGTTAA
ENST00000530893.7:c.8985_8989delinsGTTAA	ENSP00000499438.2:p.Met2995=
ENST00000665585.2:c.*916_*920delinsGTTAA	ENSP00000499570.2:n.*916_*920delinsGTTAA
ENST00000666593.2:c.*199_*203delinsGTTAA	ENSP00000499256.2:n.*199_*203delinsGTTAA
ENST00000700202.2:c.9303_9307delinsGTTAA	ENSP00000514856.2:p.Met3101=
ENST00000700202.1:c.1770_1774delinsGTTAA	ENSP00000514856.1:p.Met590=
ENST00000700203.1:n.1481_1485delinsGTTAA
ENST00000380152.8:c.9354_9358delinsGTTAA MANE Select	ENSP00000369497.3:p.Met3118=
ENST00000544455.6:c.9354_9358delinsGTTAA	ENSP00000439902.1:p.Met3118=
ENST00000614259.2:c.9362_9366delinsGTTAA	ENSP00000506251.1:n.9362_9366delinsGTTAA
ENST00000665585.1:c.2232_2236delinsGTTAA
ENST00000666593.1:c.376_380delinsGTTAA	ENSP00000499256.1:n.376_380delinsGTTAA
ENST00000680887.1:c.9354_9358delinsGTTAA	ENSP00000505508.1:p.Met3118=
ENST00000380152.7:c.9354_9358delinsGTTAA	ENSP00000369497.3:p.Met3118=
ENST00000470094.1:c.311_315delinsGTTAA
ENST00000544455.5:c.9354_9358delinsGTTAA	ENSP00000439902.1:p.Met3118=
NM_000059.3:c.9354_9358delinsGTTAA , LRG_293t1:c.9354_9358delinsGTTAA	NP_000050.2:p.Met3118=
XM_011535203.1:c.9354_9358delinsGTTAA	XP_011533505.1:p.Met3118=
XM_011535204.1:c.9258_9262delinsGTTAA	XP_011533506.1:p.Met3086=
NM_000059.4:c.9354_9358delinsGTTAA MANE Select	NP_000050.3:p.Met3118=