Canonical Allele Identifier: CA026015

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52766
• ClinVar RCV Id: RCV000045736 ; RCV000114058 ; RCV001018956 ; RCV003390743
• dbSNP Id: rs80359173
• MyVariant Identifiers: chr13:g.32954198A>G (hg19) ; chr13:g.32380061A>G (hg38)
• PubMed: PMID:10923033

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380061A>G , CM000675.2:g.32380061A>G	GRCh38
NC_000013.10:g.32954198A>G , CM000675.1:g.32954198A>G	GRCh37
NC_000013.9:g.31852198A>G	NCBI36
NG_012772.3:g.69582A>G , LRG_293:g.69582A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9172A>G	ENSP00000434898.2:p.Ser3058Gly
ENST00000528762.2:c.*539A>G	ENSP00000433168.2:n.*539A>G
ENST00000530893.7:c.8803A>G	ENSP00000499438.2:p.Ser2935Gly
ENST00000665585.2:c.*734A>G	ENSP00000499570.2:n.*734A>G
ENST00000666593.2:c.9172A>G	ENSP00000499256.2:p.Ser3058Gly
ENST00000700202.2:c.9121A>G	ENSP00000514856.2:p.Ser3041Gly
ENST00000700202.1:c.1588A>G	ENSP00000514856.1:p.Ser530Gly
ENST00000700203.1:n.1299A>G
ENST00000380152.8:c.9172A>G MANE Select	ENSP00000369497.3:p.Ser3058Gly
ENST00000544455.6:c.9172A>G	ENSP00000439902.1:p.Ser3058Gly
ENST00000614259.2:c.9180A>G	ENSP00000506251.1:n.9180A>G
ENST00000665585.1:c.2050A>G
ENST00000666593.1:c.55A>G	ENSP00000499256.1:p.Ser19Gly
ENST00000680887.1:c.9172A>G	ENSP00000505508.1:p.Ser3058Gly
ENST00000380152.7:c.9172A>G	ENSP00000369497.3:p.Ser3058Gly
ENST00000470094.1:c.129A>G
ENST00000544455.5:c.9172A>G	ENSP00000439902.1:p.Ser3058Gly
NM_000059.3:c.9172A>G , LRG_293t1:c.9172A>G	NP_000050.2:p.Ser3058Gly
XM_011535203.1:c.9172A>G	XP_011533505.1:p.Ser3058Gly
XM_011535204.1:c.9076A>G	XP_011533506.1:p.Ser3026Gly
NM_000059.4:c.9172A>G MANE Select	NP_000050.3:p.Ser3058Gly