Canonical Allele Identifier: CA954692603

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326245_32326246insTTTTTTTTTTT , CM000675.2:g.32326245_32326246insTTTTTTTTTTT	GRCh38
NC_000013.10:g.32900382_32900383insTTTTTTTTTTT , CM000675.1:g.32900382_32900383insTTTTTTTTTTT	GRCh37
NC_000013.9:g.31798382_31798383insTTTTTTTTTTT	NCBI36
NG_012772.3:g.15766_15767insTTTTTTTTTTT , LRG_293:g.15766_15767insTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.479_480insTTTTTTTTTTT	ENSP00000434898.2:p.Cys161PhefsTer15
ENST00000528762.2:c.479_480insTTTTTTTTTTT	ENSP00000433168.2:p.Cys161PhefsTer15
ENST00000530893.7:c.110_111insTTTTTTTTTTT	ENSP00000499438.2:p.Cys38PhefsTer15
ENST00000665585.2:c.479_480insTTTTTTTTTTT	ENSP00000499570.2:p.Cys161PhefsTer15
ENST00000666593.2:c.479_480insTTTTTTTTTTT	ENSP00000499256.2:p.Cys161PhefsTer15
ENST00000700202.2:c.479_480insTTTTTTTTTTT	ENSP00000514856.2:p.Cys161PhefsTer15
ENST00000700200.1:n.350_351insTTTTTTTTTTT
ENST00000700201.1:c.*258_*259insTTTTTTTTTTT	ENSP00000514855.1:n.*258_*259insTTTTTTTTTTT
ENST00000380152.8:c.479_480insTTTTTTTTTTT MANE Select	ENSP00000369497.3:p.Cys161PhefsTer15
ENST00000544455.6:c.479_480insTTTTTTTTTTT	ENSP00000439902.1:p.Cys161PhefsTer15
ENST00000614259.2:c.479_480insTTTTTTTTTTT	ENSP00000506251.1:p.Cys161PhefsTer15
ENST00000680887.1:c.479_480insTTTTTTTTTTT	ENSP00000505508.1:p.Cys161PhefsTer15
ENST00000380152.7:c.479_480insTTTTTTTTTTT	ENSP00000369497.3:p.Cys161PhefsTer15
ENST00000530893.6:n.677_678insTTTTTTTTTTT
ENST00000544455.5:c.479_480insTTTTTTTTTTT	ENSP00000439902.1:p.Cys161PhefsTer15
ENST00000614259.1:n.479_480insTTTTTTTTTTT
NM_000059.3:c.479_480insTTTTTTTTTTT , LRG_293t1:c.479_480insTTTTTTTTTTT	NP_000050.2:p.Cys161PhefsTer15
XM_011535203.1:c.479_480insTTTTTTTTTTT	XP_011533505.1:p.Cys161PhefsTer15
XM_011535204.1:c.479_480insTTTTTTTTTTT	XP_011533506.1:p.Cys161PhefsTer15
XM_011535205.1:c.479_480insTTTTTTTTTTT	XP_011533507.1:p.Cys161PhefsTer15
NM_000059.4:c.479_480insTTTTTTTTTTT MANE Select	NP_000050.3:p.Cys161PhefsTer15