Canonical Allele Identifier: CA658823622

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 548349
• ClinVar RCV Id: RCV000661497
• dbSNP Id: rs1555288465
• MyVariant Identifiers: chr13:g.32953950_32953951insTCTA (hg19) ; chr13:g.32379813_32379814insTCTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379813_32379814insTCTA , CM000675.2:g.32379813_32379814insTCTA	GRCh38
NC_000013.10:g.32953950_32953951insTCTA , CM000675.1:g.32953950_32953951insTCTA	GRCh37
NC_000013.9:g.31851950_31851951insTCTA	NCBI36
NG_012772.3:g.69334_69335insTCTA , LRG_293:g.69334_69335insTCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9017_9018insTCTA	ENSP00000434898.2:p.Arg3007LeufsTer12
ENST00000528762.2:c.*384_*385insTCTA	ENSP00000433168.2:n.*384_*385insTCTA
ENST00000530893.7:c.8648_8649insTCTA	ENSP00000499438.2:p.Arg2884LeufsTer12
ENST00000665585.2:c.*579_*580insTCTA	ENSP00000499570.2:n.*579_*580insTCTA
ENST00000666593.2:c.9017_9018insTCTA	ENSP00000499256.2:p.Arg3007LeufsTer12
ENST00000700202.2:c.8966_8967insTCTA	ENSP00000514856.2:p.Arg2990LeufsTer12
ENST00000700202.1:c.1433_1434insTCTA	ENSP00000514856.1:p.Arg479LeufsTer12
ENST00000700203.1:n.1144_1145insTCTA
ENST00000380152.8:c.9017_9018insTCTA MANE Select	ENSP00000369497.3:p.Arg3007LeufsTer12
ENST00000544455.6:c.9017_9018insTCTA	ENSP00000439902.1:p.Arg3007LeufsTer12
ENST00000614259.2:c.9025_9026insTCTA	ENSP00000506251.1:n.9025_9026insTCTA
ENST00000665585.1:c.1895_1896insTCTA
ENST00000680887.1:c.9017_9018insTCTA	ENSP00000505508.1:p.Arg3007LeufsTer12
ENST00000380152.7:c.9017_9018insTCTA	ENSP00000369497.3:p.Arg3007LeufsTer12
ENST00000544455.5:c.9017_9018insTCTA	ENSP00000439902.1:p.Arg3007LeufsTer12
NM_000059.3:c.9017_9018insTCTA , LRG_293t1:c.9017_9018insTCTA	NP_000050.2:p.Arg3007LeufsTer12
XM_011535203.1:c.9017_9018insTCTA	XP_011533505.1:p.Arg3007LeufsTer12
XM_011535204.1:c.8921_8922insTCTA	XP_011533506.1:p.Arg2975LeufsTer12
XM_011535205.1:c.*55_*56insTCTA	XP_011533507.1:n.*55_*56insTCTA
NM_000059.4:c.9017_9018insTCTA MANE Select	NP_000050.3:p.Arg3007LeufsTer12