Canonical Allele Identifier: CA387766470

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 823509
• ClinVar RCV Id: RCV001019807 ; RCV003769521
• dbSNP Id: rs1593201909
• gnomAD v4: 13-32398363-A-G
• MyVariant Identifiers: chr13:g.32972500A>G (hg19) ; chr13:g.32398363A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398363A>G , CM000675.2:g.32398363A>G	GRCh38
NC_000013.10:g.32972500A>G , CM000675.1:g.32972500A>G	GRCh37
NC_000013.9:g.31870500A>G	NCBI36
NG_012772.3:g.87884A>G , LRG_293:g.87884A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*373A>G	ENSP00000434898.2:n.*373A>G
ENST00000528762.2:c.*1217A>G	ENSP00000433168.2:n.*1217A>G
ENST00000530893.7:c.9481A>G	ENSP00000499438.2:p.Ser3161Gly
ENST00000665585.2:c.*1412A>G	ENSP00000499570.2:n.*1412A>G
ENST00000700202.2:c.9799A>G	ENSP00000514856.2:p.Ser3267Gly
ENST00000700202.1:c.2266A>G	ENSP00000514856.1:p.Ser756Gly
ENST00000700203.1:n.1977A>G
ENST00000380152.8:c.9850A>G MANE Select	ENSP00000369497.3:p.Ser3284Gly
ENST00000544455.6:c.9850A>G	ENSP00000439902.1:p.Ser3284Gly
ENST00000614259.2:c.9858A>G	ENSP00000506251.1:n.9858A>G
ENST00000680887.1:c.9850A>G	ENSP00000505508.1:p.Ser3284Gly
ENST00000380152.7:c.9850A>G	ENSP00000369497.3:p.Ser3284Gly
ENST00000533776.1:n.438A>G
ENST00000544455.5:c.9850A>G	ENSP00000439902.1:p.Ser3284Gly
NM_000059.3:c.9850A>G , LRG_293t1:c.9850A>G	NP_000050.2:p.Ser3284Gly
XM_011535203.1:c.9850A>G	XP_011533505.1:p.Ser3284Gly
XM_011535204.1:c.9754A>G	XP_011533506.1:p.Ser3252Gly
NM_000059.4:c.9850A>G MANE Select	NP_000050.3:p.Ser3284Gly