Canonical Allele Identifier: CA387766093

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 491393
• ClinVar RCV Id: RCV000582462 ; RCV001853911 ; RCV004002321
• dbSNP Id: rs1555289964
• MyVariant Identifiers: chr13:g.32972455A>G (hg19) ; chr13:g.32398318A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398318A>G , CM000675.2:g.32398318A>G	GRCh38
NC_000013.10:g.32972455A>G , CM000675.1:g.32972455A>G	GRCh37
NC_000013.9:g.31870455A>G	NCBI36
NG_012772.3:g.87839A>G , LRG_293:g.87839A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*328A>G	ENSP00000434898.2:n.*328A>G
ENST00000528762.2:c.*1172A>G	ENSP00000433168.2:n.*1172A>G
ENST00000530893.7:c.9436A>G	ENSP00000499438.2:p.Arg3146Gly
ENST00000665585.2:c.*1367A>G	ENSP00000499570.2:n.*1367A>G
ENST00000700202.2:c.9754A>G	ENSP00000514856.2:p.Arg3252Gly
ENST00000700202.1:c.2221A>G	ENSP00000514856.1:p.Arg741Gly
ENST00000700203.1:n.1932A>G
ENST00000380152.8:c.9805A>G MANE Select	ENSP00000369497.3:p.Arg3269Gly
ENST00000544455.6:c.9805A>G	ENSP00000439902.1:p.Arg3269Gly
ENST00000614259.2:c.9813A>G	ENSP00000506251.1:n.9813A>G
ENST00000680887.1:c.9805A>G	ENSP00000505508.1:p.Arg3269Gly
ENST00000380152.7:c.9805A>G	ENSP00000369497.3:p.Arg3269Gly
ENST00000533776.1:n.393A>G
ENST00000544455.5:c.9805A>G	ENSP00000439902.1:p.Arg3269Gly
NM_000059.3:c.9805A>G , LRG_293t1:c.9805A>G	NP_000050.2:p.Arg3269Gly
XM_011535203.1:c.9805A>G	XP_011533505.1:p.Arg3269Gly
XM_011535204.1:c.9709A>G	XP_011533506.1:p.Arg3237Gly
NM_000059.4:c.9805A>G MANE Select	NP_000050.3:p.Arg3269Gly