Canonical Allele Identifier: CA026331

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52915
• ClinVar RCV Id: RCV000045913 ; RCV000112822 ; RCV001019887
• dbSNP Id: rs80359250
• gnomAD v4: 13-32398430-C-T
• MyVariant Identifiers: chr13:g.32972567C>T (hg19) ; chr13:g.32398430C>T (hg38)
• PubMed: PMID:10923033

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398430C>T , CM000675.2:g.32398430C>T	GRCh38
NC_000013.10:g.32972567C>T , CM000675.1:g.32972567C>T	GRCh37
NC_000013.9:g.31870567C>T	NCBI36
NG_012772.3:g.87951C>T , LRG_293:g.87951C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*440C>T	ENSP00000434898.2:n.*440C>T
ENST00000528762.2:c.*1284C>T	ENSP00000433168.2:n.*1284C>T
ENST00000530893.7:c.9548C>T	ENSP00000499438.2:p.Thr3183Ile
ENST00000665585.2:c.*1479C>T	ENSP00000499570.2:n.*1479C>T
ENST00000700202.2:c.9866C>T	ENSP00000514856.2:p.Thr3289Ile
ENST00000700202.1:c.2333C>T	ENSP00000514856.1:p.Thr778Ile
ENST00000700203.1:n.2044C>T
ENST00000380152.8:c.9917C>T MANE Select	ENSP00000369497.3:p.Thr3306Ile
ENST00000544455.6:c.9917C>T	ENSP00000439902.1:p.Thr3306Ile
ENST00000614259.2:c.9925C>T	ENSP00000506251.1:n.9925C>T
ENST00000680887.1:c.9917C>T	ENSP00000505508.1:p.Thr3306Ile
ENST00000380152.7:c.9917C>T	ENSP00000369497.3:p.Thr3306Ile
ENST00000533776.1:n.505C>T
ENST00000544455.5:c.9917C>T	ENSP00000439902.1:p.Thr3306Ile
NM_000059.3:c.9917C>T , LRG_293t1:c.9917C>T	NP_000050.2:p.Thr3306Ile
XM_011535203.1:c.9917C>T	XP_011533505.1:p.Thr3306Ile
XM_011535204.1:c.9821C>T	XP_011533506.1:p.Thr3274Ile
NM_000059.4:c.9917C>T MANE Select	NP_000050.3:p.Thr3306Ile