Canonical Allele Identifier: CA387767832

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 489739
• ClinVar RCV Id: RCV000580599 ; RCV000793713
• dbSNP Id: rs1555290029
• MyVariant Identifiers: chr13:g.32972699A>G (hg19) ; chr13:g.32398562A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398562A>G , CM000675.2:g.32398562A>G	GRCh38
NC_000013.10:g.32972699A>G , CM000675.1:g.32972699A>G	GRCh37
NC_000013.9:g.31870699A>G	NCBI36
NG_012772.3:g.88083A>G , LRG_293:g.88083A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*572A>G	ENSP00000434898.2:n.*572A>G
ENST00000528762.2:c.*1416A>G	ENSP00000433168.2:n.*1416A>G
ENST00000530893.7:c.9680A>G	ENSP00000499438.2:p.Gln3227Arg
ENST00000665585.2:c.*1611A>G	ENSP00000499570.2:n.*1611A>G
ENST00000700202.2:c.9998A>G	ENSP00000514856.2:p.Gln3333Arg
ENST00000700202.1:c.2465A>G	ENSP00000514856.1:p.Gln822Arg
ENST00000700203.1:n.2176A>G
ENST00000380152.8:c.10049A>G MANE Select	ENSP00000369497.3:p.Gln3350Arg
ENST00000544455.6:c.10049A>G	ENSP00000439902.1:p.Gln3350Arg
ENST00000614259.2:c.10057A>G	ENSP00000506251.1:n.10057A>G
ENST00000680887.1:c.10049A>G	ENSP00000505508.1:p.Gln3350Arg
ENST00000380152.7:c.10049A>G	ENSP00000369497.3:p.Gln3350Arg
ENST00000544455.5:c.10049A>G	ENSP00000439902.1:p.Gln3350Arg
NM_000059.3:c.10049A>G , LRG_293t1:c.10049A>G	NP_000050.2:p.Gln3350Arg
XM_011535203.1:c.10049A>G	XP_011533505.1:p.Gln3350Arg
XM_011535204.1:c.9953A>G	XP_011533506.1:p.Gln3318Arg
NM_000059.4:c.10049A>G MANE Select	NP_000050.3:p.Gln3350Arg