Canonical Allele Identifier: CA021041

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 184419
• ClinVar RCV Id: RCV000163673 ; RCV001347899 ; RCV003126559
• dbSNP Id: rs786201450
• MyVariant Identifiers: chr13:g.32900396T>C (hg19) ; chr13:g.32326259T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326259T>C , CM000675.2:g.32326259T>C	GRCh38
NC_000013.10:g.32900396T>C , CM000675.1:g.32900396T>C	GRCh37
NC_000013.9:g.31798396T>C	NCBI36
NG_012772.3:g.15780T>C , LRG_293:g.15780T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.493T>C	ENSP00000434898.2:p.Phe165Leu
ENST00000528762.2:c.493T>C	ENSP00000433168.2:p.Phe165Leu
ENST00000530893.7:c.124T>C	ENSP00000499438.2:p.Phe42Leu
ENST00000665585.2:c.493T>C	ENSP00000499570.2:p.Phe165Leu
ENST00000666593.2:c.493T>C	ENSP00000499256.2:p.Phe165Leu
ENST00000700202.2:c.493T>C	ENSP00000514856.2:p.Phe165Leu
ENST00000700200.1:n.364T>C
ENST00000700201.1:c.*272T>C	ENSP00000514855.1:n.*272T>C
ENST00000380152.8:c.493T>C MANE Select	ENSP00000369497.3:p.Phe165Leu
ENST00000544455.6:c.493T>C	ENSP00000439902.1:p.Phe165Leu
ENST00000614259.2:c.493T>C	ENSP00000506251.1:p.Phe165Leu
ENST00000680887.1:c.493T>C	ENSP00000505508.1:p.Phe165Leu
ENST00000380152.7:c.493T>C	ENSP00000369497.3:p.Phe165Leu
ENST00000530893.6:n.691T>C
ENST00000544455.5:c.493T>C	ENSP00000439902.1:p.Phe165Leu
ENST00000614259.1:n.493T>C
NM_000059.3:c.493T>C , LRG_293t1:c.493T>C	NP_000050.2:p.Phe165Leu
XM_011535203.1:c.493T>C	XP_011533505.1:p.Phe165Leu
XM_011535204.1:c.493T>C	XP_011533506.1:p.Phe165Leu
XM_011535205.1:c.493T>C	XP_011533507.1:p.Phe165Leu
NM_000059.4:c.493T>C MANE Select	NP_000050.3:p.Phe165Leu