Canonical Allele Identifier: CA913191073

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 599045
• ClinVar RCV Id: RCV000735561
• dbSNP Id: rs1566219179

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326509_32326512del , CM000675.2:g.32326509_32326512del	GRCh38
NC_000013.10:g.32900646_32900649del , CM000675.1:g.32900646_32900649del	GRCh37
NC_000013.9:g.31798646_31798649del	NCBI36
NG_012772.3:g.16030_16033del , LRG_293:g.16030_16033del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.527_530del	ENSP00000434898.2:p.Thr176LysfsTer8
ENST00000528762.2:c.527_530del	ENSP00000433168.2:p.Thr176LysfsTer8
ENST00000530893.7:c.158_161del	ENSP00000499438.2:p.Thr53LysfsTer8
ENST00000665585.2:c.527_530del	ENSP00000499570.2:p.Thr176LysfsTer8
ENST00000666593.2:c.527_530del	ENSP00000499256.2:p.Thr176LysfsTer8
ENST00000700202.2:c.527_530del	ENSP00000514856.2:p.Thr176LysfsTer8
ENST00000700200.1:n.398_401del
ENST00000700201.1:c.*306_*309del	ENSP00000514855.1:n.*306_*309del
ENST00000380152.8:c.527_530del MANE Select	ENSP00000369497.3:p.Thr176LysfsTer8
ENST00000544455.6:c.527_530del	ENSP00000439902.1:p.Thr176LysfsTer8
ENST00000614259.2:c.527_530del	ENSP00000506251.1:p.Thr176LysfsTer8
ENST00000680887.1:c.527_530del	ENSP00000505508.1:p.Thr176LysfsTer8
ENST00000380152.7:c.527_530del	ENSP00000369497.3:p.Thr176LysfsTer8
ENST00000530893.6:n.725_728del
ENST00000544455.5:c.527_530del	ENSP00000439902.1:p.Thr176LysfsTer8
ENST00000614259.1:n.527_530del
NM_000059.3:c.527_530del , LRG_293t1:c.527_530del	NP_000050.2:p.Thr176LysfsTer8
XM_011535203.1:c.527_530del	XP_011533505.1:p.Thr176LysfsTer8
XM_011535204.1:c.527_530del	XP_011533506.1:p.Thr176LysfsTer8
XM_011535205.1:c.527_530del	XP_011533507.1:p.Thr176LysfsTer8
NM_000059.4:c.527_530del MANE Select	NP_000050.3:p.Thr176LysfsTer8