Canonical Allele Identifier: CA2573053814

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1315519
• ClinVar RCV Id: RCV001774764
• dbSNP Id: rs2137519213

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32339976_32339983del , CM000675.2:g.32339976_32339983del	GRCh38
NC_000013.10:g.32914113_32914120del , CM000675.1:g.32914113_32914120del	GRCh37
NC_000013.9:g.31812113_31812120del	NCBI36
NG_012772.3:g.29497_29504del , LRG_293:g.29497_29504del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.5621_5628del	ENSP00000434898.2:p.Ile1874LysfsTer5
ENST00000528762.2:c.5621_5628del	ENSP00000433168.2:p.Ile1874LysfsTer5
ENST00000530893.7:c.5252_5259del	ENSP00000499438.2:p.Ile1751LysfsTer5
ENST00000665585.2:c.5621_5628del	ENSP00000499570.2:p.Ile1874LysfsTer5
ENST00000666593.2:c.5621_5628del	ENSP00000499256.2:p.Ile1874LysfsTer5
ENST00000700202.2:c.5621_5628del	ENSP00000514856.2:p.Ile1874LysfsTer5
ENST00000380152.8:c.5621_5628del MANE Select	ENSP00000369497.3:p.Ile1874LysfsTer5
ENST00000544455.6:c.5621_5628del	ENSP00000439902.1:p.Ile1874LysfsTer5
ENST00000614259.2:c.5621_5628del	ENSP00000506251.1:p.Ile1874LysfsTer5
ENST00000680887.1:c.5621_5628del	ENSP00000505508.1:p.Ile1874LysfsTer5
ENST00000380152.7:c.5621_5628del	ENSP00000369497.3:p.Ile1874LysfsTer5
ENST00000544455.5:c.5621_5628del	ENSP00000439902.1:p.Ile1874LysfsTer5
ENST00000614259.1:n.5621_5628del
NM_000059.3:c.5621_5628del , LRG_293t1:c.5621_5628del	NP_000050.2:p.Ile1874LysfsTer5
XM_011535203.1:c.5621_5628del	XP_011533505.1:p.Ile1874LysfsTer5
XM_011535204.1:c.5621_5628del	XP_011533506.1:p.Ile1874LysfsTer5
XM_011535205.1:c.5621_5628del	XP_011533507.1:p.Ile1874LysfsTer5
NM_000059.4:c.5621_5628del MANE Select	NP_000050.3:p.Ile1874LysfsTer5