Canonical Allele Identifier: CA16619696

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 418812
• ClinVar RCV Id: RCV000481513 ; RCV003157565
• dbSNP Id: rs1064793447

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32337762_32337769delinsCATTGCAC , CM000675.2:g.32337762_32337769delinsCATTGCAC	GRCh38
NC_000013.10:g.32911899_32911906delinsCATTGCAC , CM000675.1:g.32911899_32911906delinsCATTGCAC	GRCh37
NC_000013.9:g.31809899_31809906delinsCATTGCAC	NCBI36
NG_012772.3:g.27283_27290delinsCATTGCAC , LRG_293:g.27283_27290delinsCATTGCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.3407_3414delinsCATTGCAC	ENSP00000434898.2:p.Ile1136_Gln1138delinsThrLeuHis
ENST00000528762.2:c.3407_3414delinsCATTGCAC	ENSP00000433168.2:p.Ile1136_Gln1138delinsThrLeuHis
ENST00000530893.7:c.3038_3045delinsCATTGCAC	ENSP00000499438.2:p.Ile1013_Gln1015delinsThrLeuHis
ENST00000665585.2:c.3407_3414delinsCATTGCAC	ENSP00000499570.2:p.Ile1136_Gln1138delinsThrLeuHis
ENST00000666593.2:c.3407_3414delinsCATTGCAC	ENSP00000499256.2:p.Ile1136_Gln1138delinsThrLeuHis
ENST00000700202.2:c.3407_3414delinsCATTGCAC	ENSP00000514856.2:p.Ile1136_Gln1138delinsThrLeuHis
ENST00000380152.8:c.3407_3414delinsCATTGCAC MANE Select	ENSP00000369497.3:p.Ile1136_Gln1138delinsThrLeuHis
ENST00000544455.6:c.3407_3414delinsCATTGCAC	ENSP00000439902.1:p.Ile1136_Gln1138delinsThrLeuHis
ENST00000614259.2:c.3407_3414delinsCATTGCAC	ENSP00000506251.1:p.Ile1136_Gln1138delinsThrLeuHis
ENST00000680887.1:c.3407_3414delinsCATTGCAC	ENSP00000505508.1:p.Ile1136_Gln1138delinsThrLeuHis
ENST00000380152.7:c.3407_3414delinsCATTGCAC	ENSP00000369497.3:p.Ile1136_Gln1138delinsThrLeuHis
ENST00000544455.5:c.3407_3414delinsCATTGCAC	ENSP00000439902.1:p.Ile1136_Gln1138delinsThrLeuHis
ENST00000614259.1:n.3407_3414delinsCATTGCAC
NM_000059.3:c.3407_3414delinsCATTGCAC , LRG_293t1:c.3407_3414delinsCATTGCAC	NP_000050.2:p.Ile1136_Gln1138delinsThrLeuHis
XM_011535203.1:c.3407_3414delinsCATTGCAC	XP_011533505.1:p.Ile1136_Gln1138delinsThrLeuHis
XM_011535204.1:c.3407_3414delinsCATTGCAC	XP_011533506.1:p.Ile1136_Gln1138delinsThrLeuHis
XM_011535205.1:c.3407_3414delinsCATTGCAC	XP_011533507.1:p.Ile1136_Gln1138delinsThrLeuHis
NM_000059.4:c.3407_3414delinsCATTGCAC MANE Select	NP_000050.3:p.Ile1136_Gln1138delinsThrLeuHis