Canonical Allele Identifier: CA16619637

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 419713
• ClinVar RCV Id: RCV000479560 ; RCV000661440
• dbSNP Id: rs1064794059
• MyVariant Identifiers: chr13:g.32893308del (hg19) ; chr13:g.32319171del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319171del , CM000675.2:g.32319171del	GRCh38
NC_000013.10:g.32893308del , CM000675.1:g.32893308del	GRCh37
NC_000013.9:g.31791308del	NCBI36
NG_012772.3:g.8692del , LRG_293:g.8692del
NG_017006.2:g.1193del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.162del	ENSP00000434898.2:p.Asn54LysfsTer26
ENST00000528762.2:c.162del	ENSP00000433168.2:p.Asn54LysfsTer26
ENST00000530893.7:c.-208del	ENSP00000499438.2:n.-208del
ENST00000665585.2:c.162del	ENSP00000499570.2:p.Asn54LysfsTer26
ENST00000666593.2:c.162del	ENSP00000499256.2:p.Asn54LysfsTer26
ENST00000700202.2:c.162del	ENSP00000514856.2:p.Asn54LysfsTer26
ENST00000700200.1:n.191+2644del
ENST00000700201.1:c.162del	ENSP00000514855.1:p.Asn54LysfsTer26
ENST00000380152.8:c.162del MANE Select	ENSP00000369497.3:p.Asn54LysfsTer26
ENST00000544455.6:c.162del	ENSP00000439902.1:p.Asn54LysfsTer26
ENST00000614259.2:c.162del	ENSP00000506251.1:p.Asn54LysfsTer26
ENST00000680887.1:c.162del	ENSP00000505508.1:p.Asn54LysfsTer26
ENST00000380152.7:c.162del	ENSP00000369497.3:p.Asn54LysfsTer26
ENST00000530893.6:n.360del
ENST00000544455.5:c.162del	ENSP00000439902.1:p.Asn54LysfsTer26
ENST00000614259.1:n.162del
NM_000059.3:c.162del , LRG_293t1:c.162del	NP_000050.2:p.Asn54LysfsTer26
XM_011535203.1:c.162del	XP_011533505.1:p.Asn54LysfsTer26
XM_011535204.1:c.162del	XP_011533506.1:p.Asn54LysfsTer26
XM_011535205.1:c.162del	XP_011533507.1:p.Asn54LysfsTer26
NM_000059.4:c.162del MANE Select	NP_000050.3:p.Asn54LysfsTer26