Canonical Allele Identifier: CA10577497

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 234828
• ClinVar RCV Id: RCV000219823 ; RCV000229281 ; RCV000256847 ; RCV000568965
• dbSNP Id: rs876661242
• MyVariant Identifiers: chr13:g.32968950G>A (hg19) ; chr13:g.32394813G>A (hg38)
• PubMed: PMID:22752604 ; PMID:27798748

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394813G>A , CM000675.2:g.32394813G>A	GRCh38
NC_000013.10:g.32968950G>A , CM000675.1:g.32968950G>A	GRCh37
NC_000013.9:g.31866950G>A	NCBI36
NG_012772.3:g.84334G>A , LRG_293:g.84334G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9381G>A	ENSP00000434898.2:p.Trp3127Ter
ENST00000528762.2:c.*748G>A	ENSP00000433168.2:n.*748G>A
ENST00000530893.7:c.9012G>A	ENSP00000499438.2:p.Trp3004Ter
ENST00000665585.2:c.*943G>A	ENSP00000499570.2:n.*943G>A
ENST00000666593.2:c.*226G>A	ENSP00000499256.2:n.*226G>A
ENST00000700202.2:c.9330G>A	ENSP00000514856.2:p.Trp3110Ter
ENST00000700202.1:c.1797G>A	ENSP00000514856.1:p.Trp599Ter
ENST00000700203.1:n.1508G>A
ENST00000380152.8:c.9381G>A MANE Select	ENSP00000369497.3:p.Trp3127Ter
ENST00000544455.6:c.9381G>A	ENSP00000439902.1:p.Trp3127Ter
ENST00000614259.2:c.9389G>A	ENSP00000506251.1:n.9389G>A
ENST00000665585.1:c.2259G>A
ENST00000666593.1:c.403G>A	ENSP00000499256.1:n.403G>A
ENST00000680887.1:c.9381G>A	ENSP00000505508.1:p.Trp3127Ter
ENST00000380152.7:c.9381G>A	ENSP00000369497.3:p.Trp3127Ter
ENST00000470094.1:c.338G>A
ENST00000544455.5:c.9381G>A	ENSP00000439902.1:p.Trp3127Ter
NM_000059.3:c.9381G>A , LRG_293t1:c.9381G>A	NP_000050.2:p.Trp3127Ter
XM_011535203.1:c.9381G>A	XP_011533505.1:p.Trp3127Ter
XM_011535204.1:c.9285G>A	XP_011533506.1:p.Trp3095Ter
NM_000059.4:c.9381G>A MANE Select	NP_000050.3:p.Trp3127Ter