Canonical Allele Identifier: CA025915

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52722
• ClinVar RCV Id: RCV000257890 ; RCV000657636 ; RCV000771470 ; RCV001388610
• dbSNP Id: rs397508028
• COSMIC: COSM279199 ; COSM279200
• MyVariant Identifiers: chr13:g.32953924T>G (hg19) ; chr13:g.32379787T>G (hg38)
• PubMed: PMID:16455195

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379787T>G , CM000675.2:g.32379787T>G	GRCh38
NC_000013.10:g.32953924T>G , CM000675.1:g.32953924T>G	GRCh37
NC_000013.9:g.31851924T>G	NCBI36
NG_012772.3:g.69308T>G , LRG_293:g.69308T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8991T>G	ENSP00000434898.2:p.Tyr2997Ter
ENST00000528762.2:c.*358T>G	ENSP00000433168.2:n.*358T>G
ENST00000530893.7:c.8622T>G	ENSP00000499438.2:p.Tyr2874Ter
ENST00000665585.2:c.*553T>G	ENSP00000499570.2:n.*553T>G
ENST00000666593.2:c.8991T>G	ENSP00000499256.2:p.Tyr2997Ter
ENST00000700202.2:c.8954-14T>G	ENSP00000514856.2:n.8954-14T>G
ENST00000700202.1:c.1421-14T>G	ENSP00000514856.1:n.1421-14T>G
ENST00000700203.1:n.1118T>G
ENST00000380152.8:c.8991T>G MANE Select	ENSP00000369497.3:p.Tyr2997Ter
ENST00000544455.6:c.8991T>G	ENSP00000439902.1:p.Tyr2997Ter
ENST00000614259.2:c.8999T>G	ENSP00000506251.1:n.8999T>G
ENST00000665585.1:c.1869T>G
ENST00000680887.1:c.8991T>G	ENSP00000505508.1:p.Tyr2997Ter
ENST00000380152.7:c.8991T>G	ENSP00000369497.3:p.Tyr2997Ter
ENST00000544455.5:c.8991T>G	ENSP00000439902.1:p.Tyr2997Ter
NM_000059.3:c.8991T>G , LRG_293t1:c.8991T>G	NP_000050.2:p.Tyr2997Ter
XM_011535203.1:c.8991T>G	XP_011533505.1:p.Tyr2997Ter
XM_011535204.1:c.8895T>G	XP_011533506.1:p.Tyr2965Ter
XM_011535205.1:c.*29T>G	XP_011533507.1:n.*29T>G
NM_000059.4:c.8991T>G MANE Select	NP_000050.3:p.Tyr2997Ter