Canonical Allele Identifier: CA337034

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 216239
• ClinVar RCV Id: RCV000197203 ; RCV000222578 ; RCV000662771 ; RCV000613680
• dbSNP Id: rs863224584
• gnomAD v4: 13-32398673-C-G
• MyVariant Identifiers: chr13:g.32972810C>G (hg19) ; chr13:g.32398673C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398673C>G , CM000675.2:g.32398673C>G	GRCh38
NC_000013.10:g.32972810C>G , CM000675.1:g.32972810C>G	GRCh37
NC_000013.9:g.31870810C>G	NCBI36
NG_012772.3:g.88194C>G , LRG_293:g.88194C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*683C>G	ENSP00000434898.2:n.*683C>G
ENST00000528762.2:c.*1527C>G	ENSP00000433168.2:n.*1527C>G
ENST00000530893.7:c.9791C>G	ENSP00000499438.2:p.Thr3264Ser
ENST00000665585.2:c.*1722C>G	ENSP00000499570.2:n.*1722C>G
ENST00000700202.2:c.10109C>G	ENSP00000514856.2:p.Thr3370Ser
ENST00000700202.1:c.2576C>G	ENSP00000514856.1:p.Thr859Ser
ENST00000700203.1:n.2287C>G
ENST00000380152.8:c.10160C>G MANE Select	ENSP00000369497.3:p.Thr3387Ser
ENST00000544455.6:c.10160C>G	ENSP00000439902.1:p.Thr3387Ser
ENST00000614259.2:c.10168C>G	ENSP00000506251.1:n.10168C>G
ENST00000680887.1:c.10160C>G	ENSP00000505508.1:p.Thr3387Ser
ENST00000380152.7:c.10160C>G	ENSP00000369497.3:p.Thr3387Ser
ENST00000544455.5:c.10160C>G	ENSP00000439902.1:p.Thr3387Ser
NM_000059.3:c.10160C>G , LRG_293t1:c.10160C>G	NP_000050.2:p.Thr3387Ser
XM_011535203.1:c.10160C>G	XP_011533505.1:p.Thr3387Ser
XM_011535204.1:c.10064C>G	XP_011533506.1:p.Thr3355Ser
NM_000059.4:c.10160C>G MANE Select	NP_000050.3:p.Thr3387Ser