Canonical Allele Identifier: CA2082813548

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32337353_32337354delinsAT , CM000675.2:g.32337353_32337354delinsAT	GRCh38
NC_000013.10:g.32911490_32911491delinsAT , CM000675.1:g.32911490_32911491delinsAT	GRCh37
NC_000013.9:g.31809490_31809491delinsAT	NCBI36
NG_012772.3:g.26874_26875delinsAT , LRG_293:g.26874_26875delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.2998_2999delinsAT	ENSP00000434898.2:p.Ile1000=
ENST00000528762.2:c.2998_2999delinsAT	ENSP00000433168.2:p.Ile1000=
ENST00000530893.7:c.2629_2630delinsAT	ENSP00000499438.2:p.Ile877=
ENST00000665585.2:c.2998_2999delinsAT	ENSP00000499570.2:p.Ile1000=
ENST00000666593.2:c.2998_2999delinsAT	ENSP00000499256.2:p.Ile1000=
ENST00000700202.2:c.2998_2999delinsAT	ENSP00000514856.2:p.Ile1000=
ENST00000380152.8:c.2998_2999delinsAT MANE Select	ENSP00000369497.3:p.Ile1000=
ENST00000544455.6:c.2998_2999delinsAT	ENSP00000439902.1:p.Ile1000=
ENST00000614259.2:c.2998_2999delinsAT	ENSP00000506251.1:p.Ile1000=
ENST00000680887.1:c.2998_2999delinsAT	ENSP00000505508.1:p.Ile1000=
ENST00000380152.7:c.2998_2999delinsAT	ENSP00000369497.3:p.Ile1000=
ENST00000544455.5:c.2998_2999delinsAT	ENSP00000439902.1:p.Ile1000=
ENST00000614259.1:n.2998_2999delinsAT
NM_000059.3:c.2998_2999delinsAT , LRG_293t1:c.2998_2999delinsAT	NP_000050.2:p.Ile1000=
XM_011535203.1:c.2998_2999delinsAT	XP_011533505.1:p.Ile1000=
XM_011535204.1:c.2998_2999delinsAT	XP_011533506.1:p.Ile1000=
XM_011535205.1:c.2998_2999delinsAT	XP_011533507.1:p.Ile1000=
NM_000059.4:c.2998_2999delinsAT MANE Select	NP_000050.3:p.Ile1000=