Canonical Allele Identifier: CA2580087457

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1703203
• ClinVar RCV Id: RCV002280326

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398312_32398313del , CM000675.2:g.32398312_32398313del	GRCh38
NC_000013.10:g.32972449_32972450del , CM000675.1:g.32972449_32972450del	GRCh37
NC_000013.9:g.31870449_31870450del	NCBI36
NG_012772.3:g.87833_87834del , LRG_293:g.87833_87834del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*322_*323del	ENSP00000434898.2:n.*322_*323del
ENST00000528762.2:c.*1166_*1167del	ENSP00000433168.2:n.*1166_*1167del
ENST00000530893.7:c.9430_9431del	ENSP00000499438.2:p.Lys3144GlufsTer9
ENST00000665585.2:c.*1361_*1362del	ENSP00000499570.2:n.*1361_*1362del
ENST00000700202.2:c.9748_9749del	ENSP00000514856.2:p.Lys3250GlufsTer9
ENST00000700202.1:c.2215_2216del	ENSP00000514856.1:p.Lys739GlufsTer9
ENST00000700203.1:n.1926_1927del
ENST00000380152.8:c.9799_9800del MANE Select	ENSP00000369497.3:p.Lys3267GlufsTer9
ENST00000544455.6:c.9799_9800del	ENSP00000439902.1:p.Lys3267GlufsTer9
ENST00000614259.2:c.9807_9808del	ENSP00000506251.1:n.9807_9808del
ENST00000680887.1:c.9799_9800del	ENSP00000505508.1:p.Lys3267GlufsTer9
ENST00000380152.7:c.9799_9800del	ENSP00000369497.3:p.Lys3267GlufsTer9
ENST00000533776.1:n.387_388del
ENST00000544455.5:c.9799_9800del	ENSP00000439902.1:p.Lys3267GlufsTer9
NM_000059.3:c.9799_9800del , LRG_293t1:c.9799_9800del	NP_000050.2:p.Lys3267GlufsTer9
XM_011535203.1:c.9799_9800del	XP_011533505.1:p.Lys3267GlufsTer9
XM_011535204.1:c.9703_9704del	XP_011533506.1:p.Lys3235GlufsTer9
NM_000059.4:c.9799_9800del MANE Select	NP_000050.3:p.Lys3267GlufsTer9