Canonical Allele Identifier: CA2082837710

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379775_32379779delinsATCAG , CM000675.2:g.32379775_32379779delinsATCAG	GRCh38
NC_000013.10:g.32953912_32953916delinsATCAG , CM000675.1:g.32953912_32953916delinsATCAG	GRCh37
NC_000013.9:g.31851912_31851916delinsATCAG	NCBI36
NG_012772.3:g.69296_69300delinsATCAG , LRG_293:g.69296_69300delinsATCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8979_8983delinsATCAG	ENSP00000434898.2:p.Ser2993=
ENST00000528762.2:c.*346_*350delinsATCAG	ENSP00000433168.2:n.*346_*350delinsATCAG
ENST00000530893.7:c.8610_8614delinsATCAG	ENSP00000499438.2:p.Ser2870=
ENST00000665585.2:c.*541_*545delinsATCAG	ENSP00000499570.2:n.*541_*545delinsATCAG
ENST00000666593.2:c.8979_8983delinsATCAG	ENSP00000499256.2:p.Ser2993=
ENST00000700202.2:c.8954-26_8954-22delinsATCAG	ENSP00000514856.2:n.8954-26_8954-22delinsATCAG
ENST00000700202.1:c.1421-26_1421-22delinsATCAG	ENSP00000514856.1:n.1421-26_1421-22delinsATCAG
ENST00000700203.1:n.1106_1110delinsATCAG
ENST00000380152.8:c.8979_8983delinsATCAG MANE Select	ENSP00000369497.3:p.Ser2993=
ENST00000544455.6:c.8979_8983delinsATCAG	ENSP00000439902.1:p.Ser2993=
ENST00000614259.2:c.8987_8991delinsATCAG	ENSP00000506251.1:n.8987_8991delinsATCAG
ENST00000665585.1:c.1857_1861delinsATCAG
ENST00000680887.1:c.8979_8983delinsATCAG	ENSP00000505508.1:p.Ser2993=
ENST00000380152.7:c.8979_8983delinsATCAG	ENSP00000369497.3:p.Ser2993=
ENST00000544455.5:c.8979_8983delinsATCAG	ENSP00000439902.1:p.Ser2993=
NM_000059.3:c.8979_8983delinsATCAG , LRG_293t1:c.8979_8983delinsATCAG	NP_000050.2:p.Ser2993=
XM_011535203.1:c.8979_8983delinsATCAG	XP_011533505.1:p.Ser2993=
XM_011535204.1:c.8883_8887delinsATCAG	XP_011533506.1:p.Ser2961=
XM_011535205.1:c.*17_*21delinsATCAG	XP_011533507.1:n.*17_*21delinsATCAG
NM_000059.4:c.8979_8983delinsATCAG MANE Select	NP_000050.3:p.Ser2993=