Canonical Allele Identifier: CA10589017

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 266702
• ClinVar RCV Id: RCV000256981
• dbSNP Id: rs886040429
• MyVariant Identifiers: chr13:g.32893394_32893395del (hg19) ; chr13:g.32319257_32319258del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319257_32319258del , CM000675.2:g.32319257_32319258del	GRCh38
NC_000013.10:g.32893394_32893395del , CM000675.1:g.32893394_32893395del	GRCh37
NC_000013.9:g.31791394_31791395del	NCBI36
NG_012772.3:g.8778_8779del , LRG_293:g.8778_8779del
NG_017006.2:g.1108_1109del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.248_249del	ENSP00000434898.2:p.Glu83AlafsTer17
ENST00000528762.2:c.248_249del	ENSP00000433168.2:p.Glu83AlafsTer17
ENST00000530893.7:c.-122_-121del	ENSP00000499438.2:n.-122_-121del
ENST00000665585.2:c.248_249del	ENSP00000499570.2:p.Glu83AlafsTer17
ENST00000666593.2:c.248_249del	ENSP00000499256.2:p.Glu83AlafsTer17
ENST00000700202.2:c.248_249del	ENSP00000514856.2:p.Glu83AlafsTer17
ENST00000700200.1:n.191+2730_191+2731del
ENST00000700201.1:c.248_249del	ENSP00000514855.1:p.Glu83AlafsTer17
ENST00000380152.8:c.248_249del MANE Select	ENSP00000369497.3:p.Glu83AlafsTer17
ENST00000544455.6:c.248_249del	ENSP00000439902.1:p.Glu83AlafsTer17
ENST00000614259.2:c.248_249del	ENSP00000506251.1:p.Glu83AlafsTer17
ENST00000680887.1:c.248_249del	ENSP00000505508.1:p.Glu83AlafsTer17
ENST00000380152.7:c.248_249del	ENSP00000369497.3:p.Glu83AlafsTer17
ENST00000530893.6:n.446_447del
ENST00000544455.5:c.248_249del	ENSP00000439902.1:p.Glu83AlafsTer17
ENST00000614259.1:n.248_249del
NM_000059.3:c.248_249del , LRG_293t1:c.248_249del	NP_000050.2:p.Glu83AlafsTer17
XM_011535203.1:c.248_249del	XP_011533505.1:p.Glu83AlafsTer17
XM_011535204.1:c.248_249del	XP_011533506.1:p.Glu83AlafsTer17
XM_011535205.1:c.248_249del	XP_011533507.1:p.Glu83AlafsTer17
NM_000059.4:c.248_249del MANE Select	NP_000050.3:p.Glu83AlafsTer17