Canonical Allele Identifier: CA025821

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52675
• ClinVar RCV Id: RCV000045624 ; RCV000083149 ; RCV000583458 ; RCV000759680
• dbSNP Id: rs80359133
• gnomAD v4: 13-32379332-G-T
• MyVariant Identifiers: chr13:g.32953469G>T (hg19) ; chr13:g.32379332G>T (hg38)
• PubMed: PMID:10923033

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379332G>T , CM000675.2:g.32379332G>T	GRCh38
NC_000013.10:g.32953469G>T , CM000675.1:g.32953469G>T	GRCh37
NC_000013.9:g.31851469G>T	NCBI36
NG_012772.3:g.68853G>T , LRG_293:g.68853G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8770G>T	ENSP00000434898.2:p.Glu2924Ter
ENST00000528762.2:c.*137G>T	ENSP00000433168.2:n.*137G>T
ENST00000530893.7:c.8401G>T	ENSP00000499438.2:p.Glu2801Ter
ENST00000665585.2:c.*332G>T	ENSP00000499570.2:n.*332G>T
ENST00000666593.2:c.8770G>T	ENSP00000499256.2:p.Glu2924Ter
ENST00000700202.2:c.8770G>T	ENSP00000514856.2:p.Glu2924Ter
ENST00000700202.1:c.1237G>T	ENSP00000514856.1:p.Glu413Ter
ENST00000700203.1:n.897G>T
ENST00000380152.8:c.8770G>T MANE Select	ENSP00000369497.3:p.Glu2924Ter
ENST00000544455.6:c.8770G>T	ENSP00000439902.1:p.Glu2924Ter
ENST00000614259.2:c.8778G>T	ENSP00000506251.1:n.8778G>T
ENST00000665585.1:c.1648G>T
ENST00000680887.1:c.8770G>T	ENSP00000505508.1:p.Glu2924Ter
ENST00000380152.7:c.8770G>T	ENSP00000369497.3:p.Glu2924Ter
ENST00000528762.1:c.332G>T	ENSP00000433168.1:n.332G>T
ENST00000544455.5:c.8770G>T	ENSP00000439902.1:p.Glu2924Ter
NM_000059.3:c.8770G>T , LRG_293t1:c.8770G>T	NP_000050.2:p.Glu2924Ter
XM_011535203.1:c.8770G>T	XP_011533505.1:p.Glu2924Ter
XM_011535204.1:c.8674G>T	XP_011533506.1:p.Glu2892Ter
XM_011535205.1:c.8755-418G>T	XP_011533507.1:n.8755-418G>T
NM_000059.4:c.8770G>T MANE Select	NP_000050.3:p.Glu2924Ter