Canonical Allele Identifier: CA483261968

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32953564T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379427T>A , CM000675.2:g.32379427T>A	GRCh38
NC_000013.10:g.32953564T>A , CM000675.1:g.32953564T>A	GRCh37
NC_000013.9:g.31851564T>A	NCBI36
NG_012772.3:g.68948T>A , LRG_293:g.68948T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8865T>A	ENSP00000434898.2:p.Ala2955=
ENST00000528762.2:c.*232T>A	ENSP00000433168.2:n.*232T>A
ENST00000530893.7:c.8496T>A	ENSP00000499438.2:p.Ala2832=
ENST00000665585.2:c.*427T>A	ENSP00000499570.2:n.*427T>A
ENST00000666593.2:c.8865T>A	ENSP00000499256.2:p.Ala2955=
ENST00000700202.2:c.8865T>A	ENSP00000514856.2:p.Ala2955=
ENST00000700202.1:c.1332T>A	ENSP00000514856.1:p.Ala444=
ENST00000700203.1:n.992T>A
ENST00000380152.8:c.8865T>A MANE Select	ENSP00000369497.3:p.Ala2955=
ENST00000544455.6:c.8865T>A	ENSP00000439902.1:p.Ala2955=
ENST00000614259.2:c.8873T>A	ENSP00000506251.1:n.8873T>A
ENST00000665585.1:c.1743T>A
ENST00000680887.1:c.8865T>A	ENSP00000505508.1:p.Ala2955=
ENST00000380152.7:c.8865T>A	ENSP00000369497.3:p.Ala2955=
ENST00000528762.1:c.427T>A	ENSP00000433168.1:n.427T>A
ENST00000544455.5:c.8865T>A	ENSP00000439902.1:p.Ala2955=
NM_000059.3:c.8865T>A , LRG_293t1:c.8865T>A	NP_000050.2:p.Ala2955=
XM_011535203.1:c.8865T>A	XP_011533505.1:p.Ala2955=
XM_011535204.1:c.8769T>A	XP_011533506.1:p.Ala2923=
XM_011535205.1:c.8755-323T>A	XP_011533507.1:n.8755-323T>A
NM_000059.4:c.8865T>A MANE Select	NP_000050.3:p.Ala2955=