Canonical Allele Identifier: CA387767796

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1774178
• ClinVar RCV Id: RCV002392180
• dbSNP Id: rs2137666005
• MyVariant Identifiers: chr13:g.32972689A>G (hg19) ; chr13:g.32398552A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398552A>G , CM000675.2:g.32398552A>G	GRCh38
NC_000013.10:g.32972689A>G , CM000675.1:g.32972689A>G	GRCh37
NC_000013.9:g.31870689A>G	NCBI36
NG_012772.3:g.88073A>G , LRG_293:g.88073A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*562A>G	ENSP00000434898.2:n.*562A>G
ENST00000528762.2:c.*1406A>G	ENSP00000433168.2:n.*1406A>G
ENST00000530893.7:c.9670A>G	ENSP00000499438.2:p.Ile3224Val
ENST00000665585.2:c.*1601A>G	ENSP00000499570.2:n.*1601A>G
ENST00000700202.2:c.9988A>G	ENSP00000514856.2:p.Ile3330Val
ENST00000700202.1:c.2455A>G	ENSP00000514856.1:p.Ile819Val
ENST00000700203.1:n.2166A>G
ENST00000380152.8:c.10039A>G MANE Select	ENSP00000369497.3:p.Ile3347Val
ENST00000544455.6:c.10039A>G	ENSP00000439902.1:p.Ile3347Val
ENST00000614259.2:c.10047A>G	ENSP00000506251.1:n.10047A>G
ENST00000680887.1:c.10039A>G	ENSP00000505508.1:p.Ile3347Val
ENST00000380152.7:c.10039A>G	ENSP00000369497.3:p.Ile3347Val
ENST00000544455.5:c.10039A>G	ENSP00000439902.1:p.Ile3347Val
NM_000059.3:c.10039A>G , LRG_293t1:c.10039A>G	NP_000050.2:p.Ile3347Val
XM_011535203.1:c.10039A>G	XP_011533505.1:p.Ile3347Val
XM_011535204.1:c.9943A>G	XP_011533506.1:p.Ile3315Val
NM_000059.4:c.10039A>G MANE Select	NP_000050.3:p.Ile3347Val