Canonical Allele Identifier: CA387757365

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1765242
• ClinVar RCV Id: RCV002449893
• dbSNP Id: rs1593937269
• gnomAD v4: 13-32379755-C-G
• MyVariant Identifiers: chr13:g.32953892C>G (hg19) ; chr13:g.32379755C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379755C>G , CM000675.2:g.32379755C>G	GRCh38
NC_000013.10:g.32953892C>G , CM000675.1:g.32953892C>G	GRCh37
NC_000013.9:g.31851892C>G	NCBI36
NG_012772.3:g.69276C>G , LRG_293:g.69276C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8959C>G	ENSP00000434898.2:p.Leu2987Val
ENST00000528762.2:c.*326C>G	ENSP00000433168.2:n.*326C>G
ENST00000530893.7:c.8590C>G	ENSP00000499438.2:p.Leu2864Val
ENST00000665585.2:c.*521C>G	ENSP00000499570.2:n.*521C>G
ENST00000666593.2:c.8959C>G	ENSP00000499256.2:p.Leu2987Val
ENST00000700202.2:c.8954-46C>G	ENSP00000514856.2:n.8954-46C>G
ENST00000700202.1:c.1421-46C>G	ENSP00000514856.1:n.1421-46C>G
ENST00000700203.1:n.1086C>G
ENST00000380152.8:c.8959C>G MANE Select	ENSP00000369497.3:p.Leu2987Val
ENST00000544455.6:c.8959C>G	ENSP00000439902.1:p.Leu2987Val
ENST00000614259.2:c.8967C>G	ENSP00000506251.1:n.8967C>G
ENST00000665585.1:c.1837C>G
ENST00000680887.1:c.8959C>G	ENSP00000505508.1:p.Leu2987Val
ENST00000380152.7:c.8959C>G	ENSP00000369497.3:p.Leu2987Val
ENST00000544455.5:c.8959C>G	ENSP00000439902.1:p.Leu2987Val
NM_000059.3:c.8959C>G , LRG_293t1:c.8959C>G	NP_000050.2:p.Leu2987Val
XM_011535203.1:c.8959C>G	XP_011533505.1:p.Leu2987Val
XM_011535204.1:c.8863C>G	XP_011533506.1:p.Leu2955Val
XM_011535205.1:c.8760C>G	XP_011533507.1:p.Tyr2920Ter
NM_000059.4:c.8959C>G MANE Select	NP_000050.3:p.Leu2987Val