Canonical Allele Identifier: CA026089

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52806
• ClinVar RCV Id: RCV000114086 ; RCV001310190 ; RCV001388804 ; RCV002371878
• dbSNP Id: rs80359199
• MyVariant Identifiers: chr13:g.32968855G>T (hg19) ; chr13:g.32394718G>T (hg38)
• PubMed: PMID:11802208

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394718G>T , CM000675.2:g.32394718G>T	GRCh38
NC_000013.10:g.32968855G>T , CM000675.1:g.32968855G>T	GRCh37
NC_000013.9:g.31866855G>T	NCBI36
NG_012772.3:g.84239G>T , LRG_293:g.84239G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9286G>T	ENSP00000434898.2:p.Glu3096Ter
ENST00000528762.2:c.*653G>T	ENSP00000433168.2:n.*653G>T
ENST00000530893.7:c.8917G>T	ENSP00000499438.2:p.Glu2973Ter
ENST00000665585.2:c.*848G>T	ENSP00000499570.2:n.*848G>T
ENST00000666593.2:c.*131G>T	ENSP00000499256.2:n.*131G>T
ENST00000700202.2:c.9235G>T	ENSP00000514856.2:p.Glu3079Ter
ENST00000700202.1:c.1702G>T	ENSP00000514856.1:p.Glu568Ter
ENST00000700203.1:n.1413G>T
ENST00000380152.8:c.9286G>T MANE Select	ENSP00000369497.3:p.Glu3096Ter
ENST00000544455.6:c.9286G>T	ENSP00000439902.1:p.Glu3096Ter
ENST00000614259.2:c.9294G>T	ENSP00000506251.1:n.9294G>T
ENST00000665585.1:c.2164G>T
ENST00000666593.1:c.308G>T	ENSP00000499256.1:n.308G>T
ENST00000680887.1:c.9286G>T	ENSP00000505508.1:p.Glu3096Ter
ENST00000380152.7:c.9286G>T	ENSP00000369497.3:p.Glu3096Ter
ENST00000470094.1:c.243G>T
ENST00000544455.5:c.9286G>T	ENSP00000439902.1:p.Glu3096Ter
NM_000059.3:c.9286G>T , LRG_293t1:c.9286G>T	NP_000050.2:p.Glu3096Ter
XM_011535203.1:c.9286G>T	XP_011533505.1:p.Glu3096Ter
XM_011535204.1:c.9190G>T	XP_011533506.1:p.Glu3064Ter
NM_000059.4:c.9286G>T MANE Select	NP_000050.3:p.Glu3096Ter