Canonical Allele Identifier: CA10589007

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 266603
• ClinVar RCV Id: RCV000256771
• dbSNP Id: rs886040341
• MyVariant Identifiers: chr13:g.32893250_32893256del (hg19) ; chr13:g.32319113_32319119del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319113_32319119del , CM000675.2:g.32319113_32319119del	GRCh38
NC_000013.10:g.32893250_32893256del , CM000675.1:g.32893250_32893256del	GRCh37
NC_000013.9:g.31791250_31791256del	NCBI36
NG_012772.3:g.8634_8640del , LRG_293:g.8634_8640del
NG_017006.2:g.1246_1252del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.104_110del	ENSP00000434898.2:p.Leu35GlnfsTer?
ENST00000528762.2:c.104_110del	ENSP00000433168.2:p.Leu35GlnfsTer?
ENST00000530893.7:c.-266_-260del	ENSP00000499438.2:n.-266_-260del
ENST00000665585.2:c.104_110del	ENSP00000499570.2:p.Leu35GlnfsTer?
ENST00000666593.2:c.104_110del	ENSP00000499256.2:p.Leu35GlnfsTer?
ENST00000700202.2:c.104_110del	ENSP00000514856.2:p.Leu35GlnfsTer?
ENST00000700200.1:n.191+2586_191+2592del
ENST00000700201.1:c.104_110del	ENSP00000514855.1:p.Leu35GlnfsTer?
ENST00000380152.8:c.104_110del MANE Select	ENSP00000369497.3:p.Leu35GlnfsTer?
ENST00000544455.6:c.104_110del	ENSP00000439902.1:p.Leu35GlnfsTer?
ENST00000614259.2:c.104_110del	ENSP00000506251.1:p.Leu35GlnfsTer?
ENST00000680887.1:c.104_110del	ENSP00000505508.1:p.Leu35GlnfsTer?
ENST00000380152.7:c.104_110del	ENSP00000369497.3:p.Leu35GlnfsTer?
ENST00000530893.6:n.302_308del
ENST00000544455.5:c.104_110del	ENSP00000439902.1:p.Leu35GlnfsTer?
ENST00000614259.1:n.104_110del
NM_000059.3:c.104_110del , LRG_293t1:c.104_110del	NP_000050.2:p.Leu35GlnfsTer?
XM_011535203.1:c.104_110del	XP_011533505.1:p.Leu35GlnfsTer?
XM_011535204.1:c.104_110del	XP_011533506.1:p.Leu35GlnfsTer?
XM_011535205.1:c.104_110del	XP_011533507.1:p.Leu35GlnfsTer?
NM_000059.4:c.104_110del MANE Select	NP_000050.3:p.Leu35GlnfsTer?