Canonical Allele Identifier: CA16613984

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 409560
• ClinVar RCV Id: RCV000467873 ; RCV002379463
• dbSNP Id: rs1060502467
• gnomAD v4: 13-32398267-T-C
• MyVariant Identifiers: chr13:g.32972404T>C (hg19) ; chr13:g.32398267T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398267T>C , CM000675.2:g.32398267T>C	GRCh38
NC_000013.10:g.32972404T>C , CM000675.1:g.32972404T>C	GRCh37
NC_000013.9:g.31870404T>C	NCBI36
NG_012772.3:g.87788T>C , LRG_293:g.87788T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*277T>C	ENSP00000434898.2:n.*277T>C
ENST00000528762.2:c.*1121T>C	ENSP00000433168.2:n.*1121T>C
ENST00000530893.7:c.9385T>C	ENSP00000499438.2:p.Ser3129Pro
ENST00000665585.2:c.*1316T>C	ENSP00000499570.2:n.*1316T>C
ENST00000700202.2:c.9703T>C	ENSP00000514856.2:p.Ser3235Pro
ENST00000700202.1:c.2170T>C	ENSP00000514856.1:p.Ser724Pro
ENST00000700203.1:n.1881T>C
ENST00000380152.8:c.9754T>C MANE Select	ENSP00000369497.3:p.Ser3252Pro
ENST00000544455.6:c.9754T>C	ENSP00000439902.1:p.Ser3252Pro
ENST00000614259.2:c.9762T>C	ENSP00000506251.1:n.9762T>C
ENST00000680887.1:c.9754T>C	ENSP00000505508.1:p.Ser3252Pro
ENST00000380152.7:c.9754T>C	ENSP00000369497.3:p.Ser3252Pro
ENST00000470094.1:c.837T>C
ENST00000533776.1:n.342T>C
ENST00000544455.5:c.9754T>C	ENSP00000439902.1:p.Ser3252Pro
NM_000059.3:c.9754T>C , LRG_293t1:c.9754T>C	NP_000050.2:p.Ser3252Pro
XM_011535203.1:c.9754T>C	XP_011533505.1:p.Ser3252Pro
XM_011535204.1:c.9658T>C	XP_011533506.1:p.Ser3220Pro
NM_000059.4:c.9754T>C MANE Select	NP_000050.3:p.Ser3252Pro