Canonical Allele Identifier: CA387749581

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 545487
• ClinVar RCV Id: RCV000656473 ; RCV000818447 ; RCV001027236
• dbSNP Id: rs80359062
• gnomAD v4: 13-32363367-C-T
• MyVariant Identifiers: chr13:g.32937504C>T (hg19) ; chr13:g.32363367C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363367C>T , CM000675.2:g.32363367C>T	GRCh38
NC_000013.10:g.32937504C>T , CM000675.1:g.32937504C>T	GRCh37
NC_000013.9:g.31835504C>T	NCBI36
NG_012772.3:g.52888C>T , LRG_293:g.52888C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8165C>T	ENSP00000434898.2:p.Thr2722Ile
ENST00000528762.2:c.8165C>T	ENSP00000433168.2:p.Thr2722Ile
ENST00000530893.7:c.7796C>T	ENSP00000499438.2:p.Thr2599Ile
ENST00000665585.2:c.8165C>T	ENSP00000499570.2:p.Thr2722Ile
ENST00000666593.2:c.8165C>T	ENSP00000499256.2:p.Thr2722Ile
ENST00000700202.2:c.8165C>T	ENSP00000514856.2:p.Thr2722Ile
ENST00000700202.1:c.632C>T	ENSP00000514856.1:p.Thr211Ile
ENST00000380152.8:c.8165C>T MANE Select	ENSP00000369497.3:p.Thr2722Ile
ENST00000544455.6:c.8165C>T	ENSP00000439902.1:p.Thr2722Ile
ENST00000614259.2:c.8173C>T	ENSP00000506251.1:n.8173C>T
ENST00000665585.1:c.730C>T
ENST00000680887.1:c.8165C>T	ENSP00000505508.1:p.Thr2722Ile
ENST00000380152.7:c.8165C>T	ENSP00000369497.3:p.Thr2722Ile
ENST00000544455.5:c.8165C>T	ENSP00000439902.1:p.Thr2722Ile
NM_000059.3:c.8165C>T , LRG_293t1:c.8165C>T	NP_000050.2:p.Thr2722Ile
XM_011535203.1:c.8165C>T	XP_011533505.1:p.Thr2722Ile
XM_011535204.1:c.8069C>T	XP_011533506.1:p.Thr2690Ile
XM_011535205.1:c.8165C>T	XP_011533507.1:p.Thr2722Ile
NM_000059.4:c.8165C>T MANE Select	NP_000050.3:p.Thr2722Ile