Canonical Allele Identifier: CA2082823885

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394837_32394841delinsTCTTA , CM000675.2:g.32394837_32394841delinsTCTTA	GRCh38
NC_000013.10:g.32968974_32968978delinsTCTTA , CM000675.1:g.32968974_32968978delinsTCTTA	GRCh37
NC_000013.9:g.31866974_31866978delinsTCTTA	NCBI36
NG_012772.3:g.84358_84362delinsTCTTA , LRG_293:g.84358_84362delinsTCTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9405_9409delinsTCTTA	ENSP00000434898.2:p.Leu3135=
ENST00000528762.2:c.*772_*776delinsTCTTA	ENSP00000433168.2:n.*772_*776delinsTCTTA
ENST00000530893.7:c.9036_9040delinsTCTTA	ENSP00000499438.2:p.Leu3012=
ENST00000665585.2:c.*967_*971delinsTCTTA	ENSP00000499570.2:n.*967_*971delinsTCTTA
ENST00000666593.2:c.*250_*254delinsTCTTA	ENSP00000499256.2:n.*250_*254delinsTCTTA
ENST00000700202.2:c.9354_9358delinsTCTTA	ENSP00000514856.2:p.Leu3118=
ENST00000700202.1:c.1821_1825delinsTCTTA	ENSP00000514856.1:p.Leu607=
ENST00000700203.1:n.1532_1536delinsTCTTA
ENST00000380152.8:c.9405_9409delinsTCTTA MANE Select	ENSP00000369497.3:p.Leu3135=
ENST00000544455.6:c.9405_9409delinsTCTTA	ENSP00000439902.1:p.Leu3135=
ENST00000614259.2:c.9413_9417delinsTCTTA	ENSP00000506251.1:n.9413_9417delinsTCTTA
ENST00000665585.1:c.2283_2287delinsTCTTA
ENST00000666593.1:c.427_431delinsTCTTA	ENSP00000499256.1:n.427_431delinsTCTTA
ENST00000680887.1:c.9405_9409delinsTCTTA	ENSP00000505508.1:p.Leu3135=
ENST00000380152.7:c.9405_9409delinsTCTTA	ENSP00000369497.3:p.Leu3135=
ENST00000470094.1:c.362_366delinsTCTTA
ENST00000544455.5:c.9405_9409delinsTCTTA	ENSP00000439902.1:p.Leu3135=
NM_000059.3:c.9405_9409delinsTCTTA , LRG_293t1:c.9405_9409delinsTCTTA	NP_000050.2:p.Leu3135=
XM_011535203.1:c.9405_9409delinsTCTTA	XP_011533505.1:p.Leu3135=
XM_011535204.1:c.9309_9313delinsTCTTA	XP_011533506.1:p.Leu3103=
NM_000059.4:c.9405_9409delinsTCTTA MANE Select	NP_000050.3:p.Leu3135=