Canonical Allele Identifier: CA026223

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 96884
• ClinVar RCV Id: RCV000083005 ; RCV000583198 ; RCV001050514
• dbSNP Id: rs431825376
• MyVariant Identifiers: chr13:g.32971117C>T (hg19) ; chr13:g.32396980C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396980C>T , CM000675.2:g.32396980C>T	GRCh38
NC_000013.10:g.32971117C>T , CM000675.1:g.32971117C>T	GRCh37
NC_000013.9:g.31869117C>T	NCBI36
NG_012772.3:g.86501C>T , LRG_293:g.86501C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*107C>T	ENSP00000434898.2:n.*107C>T
ENST00000528762.2:c.*951C>T	ENSP00000433168.2:n.*951C>T
ENST00000530893.7:c.9215C>T	ENSP00000499438.2:p.Thr3072Ile
ENST00000665585.2:c.*1146C>T	ENSP00000499570.2:n.*1146C>T
ENST00000700202.2:c.9533C>T	ENSP00000514856.2:p.Thr3178Ile
ENST00000700202.1:c.2000C>T	ENSP00000514856.1:p.Thr667Ile
ENST00000700203.1:n.1711C>T
ENST00000380152.8:c.9584C>T MANE Select	ENSP00000369497.3:p.Thr3195Ile
ENST00000544455.6:c.9584C>T	ENSP00000439902.1:p.Thr3195Ile
ENST00000614259.2:c.9592C>T	ENSP00000506251.1:n.9592C>T
ENST00000665585.1:c.2462C>T
ENST00000680887.1:c.9584C>T	ENSP00000505508.1:p.Thr3195Ile
ENST00000380152.7:c.9584C>T	ENSP00000369497.3:p.Thr3195Ile
ENST00000470094.1:c.667C>T
ENST00000533776.1:n.172C>T
ENST00000544455.5:c.9584C>T	ENSP00000439902.1:p.Thr3195Ile
NM_000059.3:c.9584C>T , LRG_293t1:c.9584C>T	NP_000050.2:p.Thr3195Ile
XM_011535203.1:c.9584C>T	XP_011533505.1:p.Thr3195Ile
XM_011535204.1:c.9488C>T	XP_011533506.1:p.Thr3163Ile
NM_000059.4:c.9584C>T MANE Select	NP_000050.3:p.Thr3195Ile