Canonical Allele Identifier: CA658823641

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 548344
• ClinVar RCV Id: RCV000661477
• dbSNP Id: rs1555284115
• MyVariant Identifiers: chr13:g.32913711_32913712dup (hg19) ; chr13:g.32339574_32339575dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32339574_32339575dup , CM000675.2:g.32339574_32339575dup	GRCh38
NC_000013.10:g.32913711_32913712dup , CM000675.1:g.32913711_32913712dup	GRCh37
NC_000013.9:g.31811711_31811712dup	NCBI36
NG_012772.3:g.29095_29096dup , LRG_293:g.29095_29096dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.5219_5220dup	ENSP00000434898.2:p.Ser1741Ter
ENST00000528762.2:c.5219_5220dup	ENSP00000433168.2:p.Ser1741Ter
ENST00000530893.7:c.4850_4851dup	ENSP00000499438.2:p.Ser1618Ter
ENST00000665585.2:c.5219_5220dup	ENSP00000499570.2:p.Ser1741Ter
ENST00000666593.2:c.5219_5220dup	ENSP00000499256.2:p.Ser1741Ter
ENST00000700202.2:c.5219_5220dup	ENSP00000514856.2:p.Ser1741Ter
ENST00000380152.8:c.5219_5220dup MANE Select	ENSP00000369497.3:p.Ser1741Ter
ENST00000544455.6:c.5219_5220dup	ENSP00000439902.1:p.Ser1741Ter
ENST00000614259.2:c.5219_5220dup	ENSP00000506251.1:p.Ser1741Ter
ENST00000680887.1:c.5219_5220dup	ENSP00000505508.1:p.Ser1741Ter
ENST00000380152.7:c.5219_5220dup	ENSP00000369497.3:p.Ser1741Ter
ENST00000544455.5:c.5219_5220dup	ENSP00000439902.1:p.Ser1741Ter
ENST00000614259.1:n.5219_5220dup
NM_000059.3:c.5219_5220dup , LRG_293t1:c.5219_5220dup	NP_000050.2:p.Ser1741Ter
XM_011535203.1:c.5219_5220dup	XP_011533505.1:p.Ser1741Ter
XM_011535204.1:c.5219_5220dup	XP_011533506.1:p.Ser1741Ter
XM_011535205.1:c.5219_5220dup	XP_011533507.1:p.Ser1741Ter
NM_000059.4:c.5219_5220dup MANE Select	NP_000050.3:p.Ser1741Ter