Canonical Allele Identifier: CA3261215940

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394763_32394765delinsAAA , CM000675.2:g.32394763_32394765delinsAAA	GRCh38
NC_000013.10:g.32968900_32968902delinsAAA , CM000675.1:g.32968900_32968902delinsAAA	GRCh37
NC_000013.9:g.31866900_31866902delinsAAA	NCBI36
NG_012772.3:g.84284_84286delinsAAA , LRG_293:g.84284_84286delinsAAA

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9331_9333delinsAAA MANE Select	NP_000050.3:p.Glu3111Lys
ENST00000380152.8:c.9331_9333delinsAAA MANE Select	ENSP00000369497.3:p.Glu3111Lys
NM_000059.3:c.9331_9333delinsAAA , LRG_293t1:c.9331_9333delinsAAA	NP_000050.2:p.Glu3111Lys
ENST00000380152.7:c.9331_9333delinsAAA	ENSP00000369497.3:p.Glu3111Lys
ENST00000470094.1:c.288_290delinsAAA
ENST00000470094.2:c.9331_9333delinsAAA	ENSP00000434898.2:p.Glu3111Lys
ENST00000528762.2:c.*698_*700delinsAAA	ENSP00000433168.2:n.*698_*700delinsAAA
ENST00000530893.7:c.8962_8964delinsAAA	ENSP00000499438.2:p.Glu2988Lys
ENST00000544455.5:c.9331_9333delinsAAA	ENSP00000439902.1:p.Glu3111Lys
ENST00000544455.6:c.9331_9333delinsAAA	ENSP00000439902.1:p.Glu3111Lys
ENST00000614259.2:c.9339_9341delinsAAA	ENSP00000506251.1:n.9339_9341delinsAAA
ENST00000665585.1:c.2209_2211delinsAAA
ENST00000665585.2:c.*893_*895delinsAAA	ENSP00000499570.2:n.*893_*895delinsAAA
ENST00000666593.1:c.353_355delinsAAA	ENSP00000499256.1:n.353_355delinsAAA
ENST00000666593.2:c.*176_*178delinsAAA	ENSP00000499256.2:n.*176_*178delinsAAA
ENST00000680887.1:c.9331_9333delinsAAA	ENSP00000505508.1:p.Glu3111Lys
ENST00000700202.1:c.1747_1749delinsAAA	ENSP00000514856.1:p.Glu583Lys
ENST00000700202.2:c.9280_9282delinsAAA	ENSP00000514856.2:p.Glu3094Lys
ENST00000700203.1:n.1458_1460delinsAAA
XM_011535203.1:c.9331_9333delinsAAA	XP_011533505.1:p.Glu3111Lys
XM_011535204.1:c.9235_9237delinsAAA	XP_011533506.1:p.Glu3079Lys