Canonical Allele Identifier: CA2580614697

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2431886
• ClinVar RCV Id: RCV003142469

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340263_32340264del , CM000675.2:g.32340263_32340264del	GRCh38
NC_000013.10:g.32914400_32914401del , CM000675.1:g.32914400_32914401del	GRCh37
NC_000013.9:g.31812400_31812401del	NCBI36
NG_012772.3:g.29784_29785del , LRG_293:g.29784_29785del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.5908_5909del	ENSP00000434898.2:p.Ser1970IlefsTer9
ENST00000528762.2:c.5908_5909del	ENSP00000433168.2:p.Ser1970IlefsTer9
ENST00000530893.7:c.5539_5540del	ENSP00000499438.2:p.Ser1847IlefsTer9
ENST00000665585.2:c.5908_5909del	ENSP00000499570.2:p.Ser1970IlefsTer9
ENST00000666593.2:c.5908_5909del	ENSP00000499256.2:p.Ser1970IlefsTer9
ENST00000700202.2:c.5908_5909del	ENSP00000514856.2:p.Ser1970IlefsTer9
ENST00000380152.8:c.5908_5909del MANE Select	ENSP00000369497.3:p.Ser1970IlefsTer9
ENST00000544455.6:c.5908_5909del	ENSP00000439902.1:p.Ser1970IlefsTer9
ENST00000614259.2:c.5908_5909del	ENSP00000506251.1:p.Ser1970IlefsTer9
ENST00000680887.1:c.5908_5909del	ENSP00000505508.1:p.Ser1970IlefsTer9
ENST00000380152.7:c.5908_5909del	ENSP00000369497.3:p.Ser1970IlefsTer9
ENST00000544455.5:c.5908_5909del	ENSP00000439902.1:p.Ser1970IlefsTer9
ENST00000614259.1:n.5908_5909del
NM_000059.3:c.5908_5909del , LRG_293t1:c.5908_5909del	NP_000050.2:p.Ser1970IlefsTer9
XM_011535203.1:c.5908_5909del	XP_011533505.1:p.Ser1970IlefsTer9
XM_011535204.1:c.5908_5909del	XP_011533506.1:p.Ser1970IlefsTer9
XM_011535205.1:c.5908_5909del	XP_011533507.1:p.Ser1970IlefsTer9
NM_000059.4:c.5908_5909del MANE Select	NP_000050.3:p.Ser1970IlefsTer9