Canonical Allele Identifier: CA026275

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52892
• ClinVar RCV Id: RCV000576911
• dbSNP Id: rs397508064
• MyVariant Identifiers: chr13:g.32972355_32972356insG (hg19) ; chr13:g.32398218_32398219insG (hg38)
• PubMed: PMID:16939956

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398218_32398219insG , CM000675.2:g.32398218_32398219insG	GRCh38
NC_000013.10:g.32972355_32972356insG , CM000675.1:g.32972355_32972356insG	GRCh37
NC_000013.9:g.31870355_31870356insG	NCBI36
NG_012772.3:g.87739_87740insG , LRG_293:g.87739_87740insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*228_*229insG	ENSP00000434898.2:n.*228_*229insG
ENST00000528762.2:c.*1072_*1073insG	ENSP00000433168.2:n.*1072_*1073insG
ENST00000530893.7:c.9336_9337insG	ENSP00000499438.2:p.Lys3113GlufsTer19
ENST00000665585.2:c.*1267_*1268insG	ENSP00000499570.2:n.*1267_*1268insG
ENST00000700202.2:c.9654_9655insG	ENSP00000514856.2:p.Lys3219GlufsTer19
ENST00000700202.1:c.2121_2122insG	ENSP00000514856.1:p.Lys708GlufsTer19
ENST00000700203.1:n.1832_1833insG
ENST00000380152.8:c.9705_9706insG MANE Select	ENSP00000369497.3:p.Lys3236GlufsTer19
ENST00000544455.6:c.9705_9706insG	ENSP00000439902.1:p.Lys3236GlufsTer19
ENST00000614259.2:c.9713_9714insG	ENSP00000506251.1:n.9713_9714insG
ENST00000665585.1:c.2583_2584insG
ENST00000680887.1:c.9705_9706insG	ENSP00000505508.1:p.Lys3236GlufsTer19
ENST00000380152.7:c.9705_9706insG	ENSP00000369497.3:p.Lys3236GlufsTer19
ENST00000470094.1:c.788_789insG
ENST00000533776.1:n.293_294insG
ENST00000544455.5:c.9705_9706insG	ENSP00000439902.1:p.Lys3236GlufsTer19
NM_000059.3:c.9705_9706insG , LRG_293t1:c.9705_9706insG	NP_000050.2:p.Lys3236GlufsTer19
XM_011535203.1:c.9705_9706insG	XP_011533505.1:p.Lys3236GlufsTer19
XM_011535204.1:c.9609_9610insG	XP_011533506.1:p.Lys3204GlufsTer19
NM_000059.4:c.9705_9706insG MANE Select	NP_000050.3:p.Lys3236GlufsTer19