Canonical Allele Identifier: CA2082751796

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326517_32326519delinsCAT , CM000675.2:g.32326517_32326519delinsCAT	GRCh38
NC_000013.10:g.32900654_32900656delinsCAT , CM000675.1:g.32900654_32900656delinsCAT	GRCh37
NC_000013.9:g.31798654_31798656delinsCAT	NCBI36
NG_012772.3:g.16038_16040delinsCAT , LRG_293:g.16038_16040delinsCAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.535_537delinsCAT	ENSP00000434898.2:p.His179=
ENST00000528762.2:c.535_537delinsCAT	ENSP00000433168.2:p.His179=
ENST00000530893.7:c.166_168delinsCAT	ENSP00000499438.2:p.His56=
ENST00000665585.2:c.535_537delinsCAT	ENSP00000499570.2:p.His179=
ENST00000666593.2:c.535_537delinsCAT	ENSP00000499256.2:p.His179=
ENST00000700202.2:c.535_537delinsCAT	ENSP00000514856.2:p.His179=
ENST00000700200.1:n.406_408delinsCAT
ENST00000700201.1:c.*314_*316delinsCAT	ENSP00000514855.1:n.*314_*316delinsCAT
ENST00000380152.8:c.535_537delinsCAT MANE Select	ENSP00000369497.3:p.His179=
ENST00000544455.6:c.535_537delinsCAT	ENSP00000439902.1:p.His179=
ENST00000614259.2:c.535_537delinsCAT	ENSP00000506251.1:p.His179=
ENST00000680887.1:c.535_537delinsCAT	ENSP00000505508.1:p.His179=
ENST00000380152.7:c.535_537delinsCAT	ENSP00000369497.3:p.His179=
ENST00000530893.6:n.733_735delinsCAT
ENST00000544455.5:c.535_537delinsCAT	ENSP00000439902.1:p.His179=
ENST00000614259.1:n.535_537delinsCAT
NM_000059.3:c.535_537delinsCAT , LRG_293t1:c.535_537delinsCAT	NP_000050.2:p.His179=
XM_011535203.1:c.535_537delinsCAT	XP_011533505.1:p.His179=
XM_011535204.1:c.535_537delinsCAT	XP_011533506.1:p.His179=
XM_011535205.1:c.535_537delinsCAT	XP_011533507.1:p.His179=
NM_000059.4:c.535_537delinsCAT MANE Select	NP_000050.3:p.His179=