Canonical Allele Identifier: CA658823606

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 548427
• ClinVar RCV Id: RCV000661828
• dbSNP Id: rs1555288125
• MyVariant Identifiers: chr13:g.32950815_32950816insTT (hg19) ; chr13:g.32376678_32376679insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376678_32376679insTT , CM000675.2:g.32376678_32376679insTT	GRCh38
NC_000013.10:g.32950815_32950816insTT , CM000675.1:g.32950815_32950816insTT	GRCh37
NC_000013.9:g.31848815_31848816insTT	NCBI36
NG_012772.3:g.66199_66200insTT , LRG_293:g.66199_66200insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8641_8642insTT	ENSP00000434898.2:p.Thr2881IlefsTer11
ENST00000528762.2:c.*8_*9insTT	ENSP00000433168.2:n.*8_*9insTT
ENST00000530893.7:c.8272_8273insTT	ENSP00000499438.2:p.Thr2758IlefsTer11
ENST00000665585.2:c.*203_*204insTT	ENSP00000499570.2:n.*203_*204insTT
ENST00000666593.2:c.8641_8642insTT	ENSP00000499256.2:p.Thr2881IlefsTer11
ENST00000700202.2:c.8641_8642insTT	ENSP00000514856.2:p.Thr2881IlefsTer11
ENST00000700202.1:c.1108_1109insTT	ENSP00000514856.1:p.Thr370IlefsTer11
ENST00000700203.1:n.768_769insTT
ENST00000380152.8:c.8641_8642insTT MANE Select	ENSP00000369497.3:p.Thr2881IlefsTer11
ENST00000544455.6:c.8641_8642insTT	ENSP00000439902.1:p.Thr2881IlefsTer11
ENST00000614259.2:c.8649_8650insTT	ENSP00000506251.1:n.8649_8650insTT
ENST00000665585.1:c.1519_1520insTT
ENST00000680887.1:c.8641_8642insTT	ENSP00000505508.1:p.Thr2881IlefsTer11
ENST00000380152.7:c.8641_8642insTT	ENSP00000369497.3:p.Thr2881IlefsTer11
ENST00000528762.1:c.203_204insTT	ENSP00000433168.1:n.203_204insTT
ENST00000544455.5:c.8641_8642insTT	ENSP00000439902.1:p.Thr2881IlefsTer11
NM_000059.3:c.8641_8642insTT , LRG_293t1:c.8641_8642insTT	NP_000050.2:p.Thr2881IlefsTer11
XM_011535203.1:c.8641_8642insTT	XP_011533505.1:p.Thr2881IlefsTer11
XM_011535204.1:c.8545_8546insTT	XP_011533506.1:p.Thr2849IlefsTer11
XM_011535205.1:c.8641_8642insTT	XP_011533507.1:p.Thr2881IlefsTer11
NM_000059.4:c.8641_8642insTT MANE Select	NP_000050.3:p.Thr2881IlefsTer11