Canonical Allele Identifier: CA483440209

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 481579
• ClinVar RCV Id: RCV000562898 ; RCV002060431 ; RCV003478232
• dbSNP Id: rs1555289984
• MyVariant Identifiers: chr13:g.32972523T>C (hg19) ; chr13:g.32398386T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398386T>C , CM000675.2:g.32398386T>C	GRCh38
NC_000013.10:g.32972523T>C , CM000675.1:g.32972523T>C	GRCh37
NC_000013.9:g.31870523T>C	NCBI36
NG_012772.3:g.87907T>C , LRG_293:g.87907T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*396T>C	ENSP00000434898.2:n.*396T>C
ENST00000528762.2:c.*1240T>C	ENSP00000433168.2:n.*1240T>C
ENST00000530893.7:c.9504T>C	ENSP00000499438.2:p.Ser3168=
ENST00000665585.2:c.*1435T>C	ENSP00000499570.2:n.*1435T>C
ENST00000700202.2:c.9822T>C	ENSP00000514856.2:p.Ser3274=
ENST00000700202.1:c.2289T>C	ENSP00000514856.1:p.Ser763=
ENST00000700203.1:n.2000T>C
ENST00000380152.8:c.9873T>C MANE Select	ENSP00000369497.3:p.Ser3291=
ENST00000544455.6:c.9873T>C	ENSP00000439902.1:p.Ser3291=
ENST00000614259.2:c.9881T>C	ENSP00000506251.1:n.9881T>C
ENST00000680887.1:c.9873T>C	ENSP00000505508.1:p.Ser3291=
ENST00000380152.7:c.9873T>C	ENSP00000369497.3:p.Ser3291=
ENST00000533776.1:n.461T>C
ENST00000544455.5:c.9873T>C	ENSP00000439902.1:p.Ser3291=
NM_000059.3:c.9873T>C , LRG_293t1:c.9873T>C	NP_000050.2:p.Ser3291=
XM_011535203.1:c.9873T>C	XP_011533505.1:p.Ser3291=
XM_011535204.1:c.9777T>C	XP_011533506.1:p.Ser3259=
NM_000059.4:c.9873T>C MANE Select	NP_000050.3:p.Ser3291=