Canonical Allele Identifier: CA387765506

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2696044
• ClinVar RCV Id: RCV003530379
• dbSNP Id: rs80359241
• gnomAD v4: 13-32398241-C-A
• MyVariant Identifiers: chr13:g.32972378C>A (hg19) ; chr13:g.32398241C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398241C>A , CM000675.2:g.32398241C>A	GRCh38
NC_000013.10:g.32972378C>A , CM000675.1:g.32972378C>A	GRCh37
NC_000013.9:g.31870378C>A	NCBI36
NG_012772.3:g.87762C>A , LRG_293:g.87762C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*251C>A	ENSP00000434898.2:n.*251C>A
ENST00000528762.2:c.*1095C>A	ENSP00000433168.2:n.*1095C>A
ENST00000530893.7:c.9359C>A	ENSP00000499438.2:p.Pro3120His
ENST00000665585.2:c.*1290C>A	ENSP00000499570.2:n.*1290C>A
ENST00000700202.2:c.9677C>A	ENSP00000514856.2:p.Pro3226His
ENST00000700202.1:c.2144C>A	ENSP00000514856.1:p.Pro715His
ENST00000700203.1:n.1855C>A
ENST00000380152.8:c.9728C>A MANE Select	ENSP00000369497.3:p.Pro3243His
ENST00000544455.6:c.9728C>A	ENSP00000439902.1:p.Pro3243His
ENST00000614259.2:c.9736C>A	ENSP00000506251.1:n.9736C>A
ENST00000680887.1:c.9728C>A	ENSP00000505508.1:p.Pro3243His
ENST00000380152.7:c.9728C>A	ENSP00000369497.3:p.Pro3243His
ENST00000470094.1:c.811C>A
ENST00000533776.1:n.316C>A
ENST00000544455.5:c.9728C>A	ENSP00000439902.1:p.Pro3243His
NM_000059.3:c.9728C>A , LRG_293t1:c.9728C>A	NP_000050.2:p.Pro3243His
XM_011535203.1:c.9728C>A	XP_011533505.1:p.Pro3243His
XM_011535204.1:c.9632C>A	XP_011533506.1:p.Pro3211His
NM_000059.4:c.9728C>A MANE Select	NP_000050.3:p.Pro3243His