Canonical Allele Identifier: CA387757506

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1765542
• ClinVar RCV Id: RCV002378442
• gnomAD v4: 13-32379827-C-G
• MyVariant Identifiers: chr13:g.32953964C>G (hg19) ; chr13:g.32379827C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379827C>G , CM000675.2:g.32379827C>G	GRCh38
NC_000013.10:g.32953964C>G , CM000675.1:g.32953964C>G	GRCh37
NC_000013.9:g.31851964C>G	NCBI36
NG_012772.3:g.69348C>G , LRG_293:g.69348C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9031C>G	ENSP00000434898.2:p.Leu3011Val
ENST00000528762.2:c.*398C>G	ENSP00000433168.2:n.*398C>G
ENST00000530893.7:c.8662C>G	ENSP00000499438.2:p.Leu2888Val
ENST00000665585.2:c.*593C>G	ENSP00000499570.2:n.*593C>G
ENST00000666593.2:c.9031C>G	ENSP00000499256.2:p.Leu3011Val
ENST00000700202.2:c.8980C>G	ENSP00000514856.2:p.Leu2994Val
ENST00000700202.1:c.1447C>G	ENSP00000514856.1:p.Leu483Val
ENST00000700203.1:n.1158C>G
ENST00000380152.8:c.9031C>G MANE Select	ENSP00000369497.3:p.Leu3011Val
ENST00000544455.6:c.9031C>G	ENSP00000439902.1:p.Leu3011Val
ENST00000614259.2:c.9039C>G	ENSP00000506251.1:n.9039C>G
ENST00000665585.1:c.1909C>G
ENST00000680887.1:c.9031C>G	ENSP00000505508.1:p.Leu3011Val
ENST00000380152.7:c.9031C>G	ENSP00000369497.3:p.Leu3011Val
ENST00000544455.5:c.9031C>G	ENSP00000439902.1:p.Leu3011Val
NM_000059.3:c.9031C>G , LRG_293t1:c.9031C>G	NP_000050.2:p.Leu3011Val
XM_011535203.1:c.9031C>G	XP_011533505.1:p.Leu3011Val
XM_011535204.1:c.8935C>G	XP_011533506.1:p.Leu2979Val
XM_011535205.1:c.*69C>G	XP_011533507.1:n.*69C>G
NM_000059.4:c.9031C>G MANE Select	NP_000050.3:p.Leu3011Val