Canonical Allele Identifier: CA10589536

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267127
• ClinVar RCV Id: RCV000256986
• dbSNP Id: rs886040809
• MyVariant Identifiers: chr13:g.32953926_32953957del (hg19) ; chr13:g.32379789_32379820del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379789_32379820del , CM000675.2:g.32379789_32379820del	GRCh38
NC_000013.10:g.32953926_32953957del , CM000675.1:g.32953926_32953957del	GRCh37
NC_000013.9:g.31851926_31851957del	NCBI36
NG_012772.3:g.69310_69341del , LRG_293:g.69310_69341del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8993_9024del	ENSP00000434898.2:p.Ser2998LeufsTer9
ENST00000528762.2:c.*360_*391del	ENSP00000433168.2:n.*360_*391del
ENST00000530893.7:c.8624_8655del	ENSP00000499438.2:p.Ser2875LeufsTer9
ENST00000665585.2:c.*555_*586del	ENSP00000499570.2:n.*555_*586del
ENST00000666593.2:c.8993_9024del	ENSP00000499256.2:p.Ser2998LeufsTer9
ENST00000700202.2:c.8954-12_8973del
ENST00000700202.1:c.1421-12_1440del
ENST00000700203.1:n.1120_1151del
ENST00000380152.8:c.8993_9024del MANE Select	ENSP00000369497.3:p.Ser2998LeufsTer9
ENST00000544455.6:c.8993_9024del	ENSP00000439902.1:p.Ser2998LeufsTer9
ENST00000614259.2:c.9001_9032del	ENSP00000506251.1:n.9001_9032del
ENST00000665585.1:c.1871_1902del
ENST00000680887.1:c.8993_9024del	ENSP00000505508.1:p.Ser2998LeufsTer9
ENST00000380152.7:c.8993_9024del	ENSP00000369497.3:p.Ser2998LeufsTer9
ENST00000544455.5:c.8993_9024del	ENSP00000439902.1:p.Ser2998LeufsTer9
NM_000059.3:c.8993_9024del , LRG_293t1:c.8993_9024del	NP_000050.2:p.Ser2998LeufsTer9
XM_011535203.1:c.8993_9024del	XP_011533505.1:p.Ser2998LeufsTer9
XM_011535204.1:c.8897_8928del	XP_011533506.1:p.Ser2966LeufsTer9
XM_011535205.1:c.*31_*62del	XP_011533507.1:n.*31_*62del
NM_000059.4:c.8993_9024del MANE Select	NP_000050.3:p.Ser2998LeufsTer9