Canonical Allele Identifier: CA483440034

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972607T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398470T>A , CM000675.2:g.32398470T>A	GRCh38
NC_000013.10:g.32972607T>A , CM000675.1:g.32972607T>A	GRCh37
NC_000013.9:g.31870607T>A	NCBI36
NG_012772.3:g.87991T>A , LRG_293:g.87991T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*480T>A	ENSP00000434898.2:n.*480T>A
ENST00000528762.2:c.*1324T>A	ENSP00000433168.2:n.*1324T>A
ENST00000530893.7:c.9588T>A	ENSP00000499438.2:p.Ser3196=
ENST00000665585.2:c.*1519T>A	ENSP00000499570.2:n.*1519T>A
ENST00000700202.2:c.9906T>A	ENSP00000514856.2:p.Ser3302=
ENST00000700202.1:c.2373T>A	ENSP00000514856.1:p.Ser791=
ENST00000700203.1:n.2084T>A
ENST00000380152.8:c.9957T>A MANE Select	ENSP00000369497.3:p.Ser3319=
ENST00000544455.6:c.9957T>A	ENSP00000439902.1:p.Ser3319=
ENST00000614259.2:c.9965T>A	ENSP00000506251.1:n.9965T>A
ENST00000680887.1:c.9957T>A	ENSP00000505508.1:p.Ser3319=
ENST00000380152.7:c.9957T>A	ENSP00000369497.3:p.Ser3319=
ENST00000544455.5:c.9957T>A	ENSP00000439902.1:p.Ser3319=
NM_000059.3:c.9957T>A , LRG_293t1:c.9957T>A	NP_000050.2:p.Ser3319=
XM_011535203.1:c.9957T>A	XP_011533505.1:p.Ser3319=
XM_011535204.1:c.9861T>A	XP_011533506.1:p.Ser3287=
NM_000059.4:c.9957T>A MANE Select	NP_000050.3:p.Ser3319=