Canonical Allele Identifier: CA658823601

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 548323
• ClinVar RCV Id: RCV000661381
• dbSNP Id: rs1555289922
• MyVariant Identifiers: chr13:g.32972354_32972355insG (hg19) ; chr13:g.32398217_32398218insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398217_32398218insG , CM000675.2:g.32398217_32398218insG	GRCh38
NC_000013.10:g.32972354_32972355insG , CM000675.1:g.32972354_32972355insG	GRCh37
NC_000013.9:g.31870354_31870355insG	NCBI36
NG_012772.3:g.87738_87739insG , LRG_293:g.87738_87739insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*227_*228insG	ENSP00000434898.2:n.*227_*228insG
ENST00000528762.2:c.*1071_*1072insG	ENSP00000433168.2:n.*1071_*1072insG
ENST00000530893.7:c.9335_9336insG	ENSP00000499438.2:p.Lys3113GlnfsTer19
ENST00000665585.2:c.*1266_*1267insG	ENSP00000499570.2:n.*1266_*1267insG
ENST00000700202.2:c.9653_9654insG	ENSP00000514856.2:p.Lys3219GlnfsTer19
ENST00000700202.1:c.2120_2121insG	ENSP00000514856.1:p.Lys708GlnfsTer19
ENST00000700203.1:n.1831_1832insG
ENST00000380152.8:c.9704_9705insG MANE Select	ENSP00000369497.3:p.Lys3236GlnfsTer19
ENST00000544455.6:c.9704_9705insG	ENSP00000439902.1:p.Lys3236GlnfsTer19
ENST00000614259.2:c.9712_9713insG	ENSP00000506251.1:n.9712_9713insG
ENST00000665585.1:c.2582_2583insG
ENST00000680887.1:c.9704_9705insG	ENSP00000505508.1:p.Lys3236GlnfsTer19
ENST00000380152.7:c.9704_9705insG	ENSP00000369497.3:p.Lys3236GlnfsTer19
ENST00000470094.1:c.787_788insG
ENST00000533776.1:n.292_293insG
ENST00000544455.5:c.9704_9705insG	ENSP00000439902.1:p.Lys3236GlnfsTer19
NM_000059.3:c.9704_9705insG , LRG_293t1:c.9704_9705insG	NP_000050.2:p.Lys3236GlnfsTer19
XM_011535203.1:c.9704_9705insG	XP_011533505.1:p.Lys3236GlnfsTer19
XM_011535204.1:c.9608_9609insG	XP_011533506.1:p.Lys3204GlnfsTer19
NM_000059.4:c.9704_9705insG MANE Select	NP_000050.3:p.Lys3236GlnfsTer19