Canonical Allele Identifier: CA10589510

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267100
• ClinVar RCV Id: RCV000257466
• dbSNP Id: rs886040785
• MyVariant Identifiers: chr13:g.32950819_32950820del (hg19) ; chr13:g.32376682_32376683del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376682_32376683del , CM000675.2:g.32376682_32376683del	GRCh38
NC_000013.10:g.32950819_32950820del , CM000675.1:g.32950819_32950820del	GRCh37
NC_000013.9:g.31848819_31848820del	NCBI36
NG_012772.3:g.66203_66204del , LRG_293:g.66203_66204del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8645_8646del	ENSP00000434898.2:p.Lys2882ThrfsTer24
ENST00000528762.2:c.*12_*13del	ENSP00000433168.2:n.*12_*13del
ENST00000530893.7:c.8276_8277del	ENSP00000499438.2:p.Lys2759ThrfsTer24
ENST00000665585.2:c.*207_*208del	ENSP00000499570.2:n.*207_*208del
ENST00000666593.2:c.8645_8646del	ENSP00000499256.2:p.Lys2882ThrfsTer24
ENST00000700202.2:c.8645_8646del	ENSP00000514856.2:p.Lys2882ThrfsTer24
ENST00000700202.1:c.1112_1113del	ENSP00000514856.1:p.Lys371ThrfsTer24
ENST00000700203.1:n.772_773del
ENST00000380152.8:c.8645_8646del MANE Select	ENSP00000369497.3:p.Lys2882ThrfsTer24
ENST00000544455.6:c.8645_8646del	ENSP00000439902.1:p.Lys2882ThrfsTer24
ENST00000614259.2:c.8653_8654del	ENSP00000506251.1:n.8653_8654del
ENST00000665585.1:c.1523_1524del
ENST00000680887.1:c.8645_8646del	ENSP00000505508.1:p.Lys2882ThrfsTer24
ENST00000380152.7:c.8645_8646del	ENSP00000369497.3:p.Lys2882ThrfsTer24
ENST00000528762.1:c.207_208del	ENSP00000433168.1:n.207_208del
ENST00000544455.5:c.8645_8646del	ENSP00000439902.1:p.Lys2882ThrfsTer24
NM_000059.3:c.8645_8646del , LRG_293t1:c.8645_8646del	NP_000050.2:p.Lys2882ThrfsTer24
XM_011535203.1:c.8645_8646del	XP_011533505.1:p.Lys2882ThrfsTer24
XM_011535204.1:c.8549_8550del	XP_011533506.1:p.Lys2850ThrfsTer24
XM_011535205.1:c.8645_8646del	XP_011533507.1:p.Lys2882ThrfsTer24
NM_000059.4:c.8645_8646del MANE Select	NP_000050.3:p.Lys2882ThrfsTer24