Canonical Allele Identifier: CA483262110

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1171113
• ClinVar RCV Id: RCV001524027 ; RCV003478866 ; RCV003645232
• dbSNP Id: rs2137625533
• gnomAD v4: 13-32380108-C-T
• MyVariant Identifiers: chr13:g.32954245C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380108C>T , CM000675.2:g.32380108C>T	GRCh38
NC_000013.10:g.32954245C>T , CM000675.1:g.32954245C>T	GRCh37
NC_000013.9:g.31852245C>T	NCBI36
NG_012772.3:g.69629C>T , LRG_293:g.69629C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9219C>T	ENSP00000434898.2:p.Asp3073=
ENST00000528762.2:c.*586C>T	ENSP00000433168.2:n.*586C>T
ENST00000530893.7:c.8850C>T	ENSP00000499438.2:p.Asp2950=
ENST00000665585.2:c.*781C>T	ENSP00000499570.2:n.*781C>T
ENST00000666593.2:c.9219C>T	ENSP00000499256.2:p.Asp3073=
ENST00000700202.2:c.9168C>T	ENSP00000514856.2:p.Asp3056=
ENST00000700202.1:c.1635C>T	ENSP00000514856.1:p.Asp545=
ENST00000700203.1:n.1346C>T
ENST00000380152.8:c.9219C>T MANE Select	ENSP00000369497.3:p.Asp3073=
ENST00000544455.6:c.9219C>T	ENSP00000439902.1:p.Asp3073=
ENST00000614259.2:c.9227C>T	ENSP00000506251.1:n.9227C>T
ENST00000665585.1:c.2097C>T
ENST00000666593.1:c.102C>T	ENSP00000499256.1:p.Asp34=
ENST00000680887.1:c.9219C>T	ENSP00000505508.1:p.Asp3073=
ENST00000380152.7:c.9219C>T	ENSP00000369497.3:p.Asp3073=
ENST00000470094.1:c.176C>T
ENST00000544455.5:c.9219C>T	ENSP00000439902.1:p.Asp3073=
NM_000059.3:c.9219C>T , LRG_293t1:c.9219C>T	NP_000050.2:p.Asp3073=
XM_011535203.1:c.9219C>T	XP_011533505.1:p.Asp3073=
XM_011535204.1:c.9123C>T	XP_011533506.1:p.Asp3041=
NM_000059.4:c.9219C>T MANE Select	NP_000050.3:p.Asp3073=