Canonical Allele Identifier: CA2082837698

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379775_32379778delinsATCA , CM000675.2:g.32379775_32379778delinsATCA	GRCh38
NC_000013.10:g.32953912_32953915delinsATCA , CM000675.1:g.32953912_32953915delinsATCA	GRCh37
NC_000013.9:g.31851912_31851915delinsATCA	NCBI36
NG_012772.3:g.69296_69299delinsATCA , LRG_293:g.69296_69299delinsATCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8979_8982delinsATCA	ENSP00000434898.2:p.Ser2993=
ENST00000528762.2:c.*346_*349delinsATCA	ENSP00000433168.2:n.*346_*349delinsATCA
ENST00000530893.7:c.8610_8613delinsATCA	ENSP00000499438.2:p.Ser2870=
ENST00000665585.2:c.*541_*544delinsATCA	ENSP00000499570.2:n.*541_*544delinsATCA
ENST00000666593.2:c.8979_8982delinsATCA	ENSP00000499256.2:p.Ser2993=
ENST00000700202.2:c.8954-26_8954-23delinsATCA	ENSP00000514856.2:n.8954-26_8954-23delinsATCA
ENST00000700202.1:c.1421-26_1421-23delinsATCA	ENSP00000514856.1:n.1421-26_1421-23delinsATCA
ENST00000700203.1:n.1106_1109delinsATCA
ENST00000380152.8:c.8979_8982delinsATCA MANE Select	ENSP00000369497.3:p.Ser2993=
ENST00000544455.6:c.8979_8982delinsATCA	ENSP00000439902.1:p.Ser2993=
ENST00000614259.2:c.8987_8990delinsATCA	ENSP00000506251.1:n.8987_8990delinsATCA
ENST00000665585.1:c.1857_1860delinsATCA
ENST00000680887.1:c.8979_8982delinsATCA	ENSP00000505508.1:p.Ser2993=
ENST00000380152.7:c.8979_8982delinsATCA	ENSP00000369497.3:p.Ser2993=
ENST00000544455.5:c.8979_8982delinsATCA	ENSP00000439902.1:p.Ser2993=
NM_000059.3:c.8979_8982delinsATCA , LRG_293t1:c.8979_8982delinsATCA	NP_000050.2:p.Ser2993=
XM_011535203.1:c.8979_8982delinsATCA	XP_011533505.1:p.Ser2993=
XM_011535204.1:c.8883_8886delinsATCA	XP_011533506.1:p.Ser2961=
XM_011535205.1:c.*17_*20delinsATCA	XP_011533507.1:n.*17_*20delinsATCA
NM_000059.4:c.8979_8982delinsATCA MANE Select	NP_000050.3:p.Ser2993=