Canonical Allele Identifier: CA3261215905

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394733_32394735delinsGTA , CM000675.2:g.32394733_32394735delinsGTA	GRCh38
NC_000013.10:g.32968870_32968872delinsGTA , CM000675.1:g.32968870_32968872delinsGTA	GRCh37
NC_000013.9:g.31866870_31866872delinsGTA	NCBI36
NG_012772.3:g.84254_84256delinsGTA , LRG_293:g.84254_84256delinsGTA

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9301_9303delinsGTA MANE Select	NP_000050.3:p.Leu3101Val
ENST00000380152.8:c.9301_9303delinsGTA MANE Select	ENSP00000369497.3:p.Leu3101Val
NM_000059.3:c.9301_9303delinsGTA , LRG_293t1:c.9301_9303delinsGTA	NP_000050.2:p.Leu3101Val
ENST00000380152.7:c.9301_9303delinsGTA	ENSP00000369497.3:p.Leu3101Val
ENST00000470094.1:c.258_260delinsGTA
ENST00000470094.2:c.9301_9303delinsGTA	ENSP00000434898.2:p.Leu3101Val
ENST00000528762.2:c.*668_*670delinsGTA	ENSP00000433168.2:n.*668_*670delinsGTA
ENST00000530893.7:c.8932_8934delinsGTA	ENSP00000499438.2:p.Leu2978Val
ENST00000544455.5:c.9301_9303delinsGTA	ENSP00000439902.1:p.Leu3101Val
ENST00000544455.6:c.9301_9303delinsGTA	ENSP00000439902.1:p.Leu3101Val
ENST00000614259.2:c.9309_9311delinsGTA	ENSP00000506251.1:n.9309_9311delinsGTA
ENST00000665585.1:c.2179_2181delinsGTA
ENST00000665585.2:c.*863_*865delinsGTA	ENSP00000499570.2:n.*863_*865delinsGTA
ENST00000666593.1:c.323_325delinsGTA	ENSP00000499256.1:n.323_325delinsGTA
ENST00000666593.2:c.*146_*148delinsGTA	ENSP00000499256.2:n.*146_*148delinsGTA
ENST00000680887.1:c.9301_9303delinsGTA	ENSP00000505508.1:p.Leu3101Val
ENST00000700202.1:c.1717_1719delinsGTA	ENSP00000514856.1:p.Leu573Val
ENST00000700202.2:c.9250_9252delinsGTA	ENSP00000514856.2:p.Leu3084Val
ENST00000700203.1:n.1428_1430delinsGTA
XM_011535203.1:c.9301_9303delinsGTA	XP_011533505.1:p.Leu3101Val
XM_011535204.1:c.9205_9207delinsGTA	XP_011533506.1:p.Leu3069Val