Canonical Allele Identifier: CA3261215908

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394734_32394735delinsGA , CM000675.2:g.32394734_32394735delinsGA	GRCh38
NC_000013.10:g.32968871_32968872delinsGA , CM000675.1:g.32968871_32968872delinsGA	GRCh37
NC_000013.9:g.31866871_31866872delinsGA	NCBI36
NG_012772.3:g.84255_84256delinsGA , LRG_293:g.84255_84256delinsGA

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9302_9303delinsGA MANE Select	NP_000050.3:p.Leu3101Arg
ENST00000380152.8:c.9302_9303delinsGA MANE Select	ENSP00000369497.3:p.Leu3101Arg
NM_000059.3:c.9302_9303delinsGA , LRG_293t1:c.9302_9303delinsGA	NP_000050.2:p.Leu3101Arg
ENST00000380152.7:c.9302_9303delinsGA	ENSP00000369497.3:p.Leu3101Arg
ENST00000470094.1:c.259_260delinsGA
ENST00000470094.2:c.9302_9303delinsGA	ENSP00000434898.2:p.Leu3101Arg
ENST00000528762.2:c.*669_*670delinsGA	ENSP00000433168.2:n.*669_*670delinsGA
ENST00000530893.7:c.8933_8934delinsGA	ENSP00000499438.2:p.Leu2978Arg
ENST00000544455.5:c.9302_9303delinsGA	ENSP00000439902.1:p.Leu3101Arg
ENST00000544455.6:c.9302_9303delinsGA	ENSP00000439902.1:p.Leu3101Arg
ENST00000614259.2:c.9310_9311delinsGA	ENSP00000506251.1:n.9310_9311delinsGA
ENST00000665585.1:c.2180_2181delinsGA
ENST00000665585.2:c.*864_*865delinsGA	ENSP00000499570.2:n.*864_*865delinsGA
ENST00000666593.1:c.324_325delinsGA	ENSP00000499256.1:n.324_325delinsGA
ENST00000666593.2:c.*147_*148delinsGA	ENSP00000499256.2:n.*147_*148delinsGA
ENST00000680887.1:c.9302_9303delinsGA	ENSP00000505508.1:p.Leu3101Arg
ENST00000700202.1:c.1718_1719delinsGA	ENSP00000514856.1:p.Leu573Arg
ENST00000700202.2:c.9251_9252delinsGA	ENSP00000514856.2:p.Leu3084Arg
ENST00000700203.1:n.1429_1430delinsGA
XM_011535203.1:c.9302_9303delinsGA	XP_011533505.1:p.Leu3101Arg
XM_011535204.1:c.9206_9207delinsGA	XP_011533506.1:p.Leu3069Arg