Canonical Allele Identifier: CA387767650

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1768832
• ClinVar RCV Id: RCV002383049
• MyVariant Identifiers: chr13:g.32972647C>A (hg19) ; chr13:g.32398510C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398510C>A , CM000675.2:g.32398510C>A	GRCh38
NC_000013.10:g.32972647C>A , CM000675.1:g.32972647C>A	GRCh37
NC_000013.9:g.31870647C>A	NCBI36
NG_012772.3:g.88031C>A , LRG_293:g.88031C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*520C>A	ENSP00000434898.2:n.*520C>A
ENST00000528762.2:c.*1364C>A	ENSP00000433168.2:n.*1364C>A
ENST00000530893.7:c.9628C>A	ENSP00000499438.2:p.Leu3210Ile
ENST00000665585.2:c.*1559C>A	ENSP00000499570.2:n.*1559C>A
ENST00000700202.2:c.9946C>A	ENSP00000514856.2:p.Leu3316Ile
ENST00000700202.1:c.2413C>A	ENSP00000514856.1:p.Leu805Ile
ENST00000700203.1:n.2124C>A
ENST00000380152.8:c.9997C>A MANE Select	ENSP00000369497.3:p.Leu3333Ile
ENST00000544455.6:c.9997C>A	ENSP00000439902.1:p.Leu3333Ile
ENST00000614259.2:c.10005C>A	ENSP00000506251.1:n.10005C>A
ENST00000680887.1:c.9997C>A	ENSP00000505508.1:p.Leu3333Ile
ENST00000380152.7:c.9997C>A	ENSP00000369497.3:p.Leu3333Ile
ENST00000544455.5:c.9997C>A	ENSP00000439902.1:p.Leu3333Ile
NM_000059.3:c.9997C>A , LRG_293t1:c.9997C>A	NP_000050.2:p.Leu3333Ile
XM_011535203.1:c.9997C>A	XP_011533505.1:p.Leu3333Ile
XM_011535204.1:c.9901C>A	XP_011533506.1:p.Leu3301Ile
NM_000059.4:c.9997C>A MANE Select	NP_000050.3:p.Leu3333Ile