Canonical Allele Identifier: CA483261782

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 427472
• ClinVar RCV Id: RCV000495201
• dbSNP Id: rs1131692143
• MyVariant Identifiers: chr13:g.32950862T>C (hg19) ; chr13:g.32376725T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376725T>C , CM000675.2:g.32376725T>C	GRCh38
NC_000013.10:g.32950862T>C , CM000675.1:g.32950862T>C	GRCh37
NC_000013.9:g.31848862T>C	NCBI36
NG_012772.3:g.66246T>C , LRG_293:g.66246T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8688T>C	ENSP00000434898.2:p.Arg2896=
ENST00000528762.2:c.*55T>C	ENSP00000433168.2:n.*55T>C
ENST00000530893.7:c.8319T>C	ENSP00000499438.2:p.Arg2773=
ENST00000665585.2:c.*250T>C	ENSP00000499570.2:n.*250T>C
ENST00000666593.2:c.8688T>C	ENSP00000499256.2:p.Arg2896=
ENST00000700202.2:c.8688T>C	ENSP00000514856.2:p.Arg2896=
ENST00000700202.1:c.1155T>C	ENSP00000514856.1:p.Arg385=
ENST00000700203.1:n.815T>C
ENST00000380152.8:c.8688T>C MANE Select	ENSP00000369497.3:p.Arg2896=
ENST00000544455.6:c.8688T>C	ENSP00000439902.1:p.Arg2896=
ENST00000614259.2:c.8696T>C	ENSP00000506251.1:n.8696T>C
ENST00000665585.1:c.1566T>C
ENST00000680887.1:c.8688T>C	ENSP00000505508.1:p.Arg2896=
ENST00000380152.7:c.8688T>C	ENSP00000369497.3:p.Arg2896=
ENST00000528762.1:c.250T>C	ENSP00000433168.1:n.250T>C
ENST00000544455.5:c.8688T>C	ENSP00000439902.1:p.Arg2896=
NM_000059.3:c.8688T>C , LRG_293t1:c.8688T>C	NP_000050.2:p.Arg2896=
XM_011535203.1:c.8688T>C	XP_011533505.1:p.Arg2896=
XM_011535204.1:c.8592T>C	XP_011533506.1:p.Arg2864=
XM_011535205.1:c.8688T>C	XP_011533507.1:p.Arg2896=
NM_000059.4:c.8688T>C MANE Select	NP_000050.3:p.Arg2896=