Canonical Allele Identifier: CA483439933

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137663151
• MyVariant Identifiers: chr13:g.32972367T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398230T>A , CM000675.2:g.32398230T>A	GRCh38
NC_000013.10:g.32972367T>A , CM000675.1:g.32972367T>A	GRCh37
NC_000013.9:g.31870367T>A	NCBI36
NG_012772.3:g.87751T>A , LRG_293:g.87751T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*240T>A	ENSP00000434898.2:n.*240T>A
ENST00000528762.2:c.*1084T>A	ENSP00000433168.2:n.*1084T>A
ENST00000530893.7:c.9348T>A	ENSP00000499438.2:p.Ser3116=
ENST00000665585.2:c.*1279T>A	ENSP00000499570.2:n.*1279T>A
ENST00000700202.2:c.9666T>A	ENSP00000514856.2:p.Ser3222=
ENST00000700202.1:c.2133T>A	ENSP00000514856.1:p.Ser711=
ENST00000700203.1:n.1844T>A
ENST00000380152.8:c.9717T>A MANE Select	ENSP00000369497.3:p.Ser3239=
ENST00000544455.6:c.9717T>A	ENSP00000439902.1:p.Ser3239=
ENST00000614259.2:c.9725T>A	ENSP00000506251.1:n.9725T>A
ENST00000665585.1:c.2595T>A
ENST00000680887.1:c.9717T>A	ENSP00000505508.1:p.Ser3239=
ENST00000380152.7:c.9717T>A	ENSP00000369497.3:p.Ser3239=
ENST00000470094.1:c.800T>A
ENST00000533776.1:n.305T>A
ENST00000544455.5:c.9717T>A	ENSP00000439902.1:p.Ser3239=
NM_000059.3:c.9717T>A , LRG_293t1:c.9717T>A	NP_000050.2:p.Ser3239=
XM_011535203.1:c.9717T>A	XP_011533505.1:p.Ser3239=
XM_011535204.1:c.9621T>A	XP_011533506.1:p.Ser3207=
NM_000059.4:c.9717T>A MANE Select	NP_000050.3:p.Ser3239=