Canonical Allele Identifier: CA025524

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 9343
• ClinVar RCV Id: RCV000009934 ; RCV000113889 ; RCV000236578 ; RCV001380789
• dbSNP Id: rs80359070
• MyVariant Identifiers: chr13:g.32937558T>A (hg19) ; chr13:g.32363421T>A (hg38)
• PubMed: PMID:14670928 ; PMID:15004464

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363421T>A , CM000675.2:g.32363421T>A	GRCh38
NC_000013.10:g.32937558T>A , CM000675.1:g.32937558T>A	GRCh37
NC_000013.9:g.31835558T>A	NCBI36
NG_012772.3:g.52942T>A , LRG_293:g.52942T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8219T>A	ENSP00000434898.2:p.Leu2740Ter
ENST00000528762.2:c.8219T>A	ENSP00000433168.2:p.Leu2740Ter
ENST00000530893.7:c.7850T>A	ENSP00000499438.2:p.Leu2617Ter
ENST00000665585.2:c.8219T>A	ENSP00000499570.2:p.Leu2740Ter
ENST00000666593.2:c.8219T>A	ENSP00000499256.2:p.Leu2740Ter
ENST00000700202.2:c.8219T>A	ENSP00000514856.2:p.Leu2740Ter
ENST00000700202.1:c.686T>A	ENSP00000514856.1:p.Leu229Ter
ENST00000380152.8:c.8219T>A MANE Select	ENSP00000369497.3:p.Leu2740Ter
ENST00000544455.6:c.8219T>A	ENSP00000439902.1:p.Leu2740Ter
ENST00000614259.2:c.8227T>A	ENSP00000506251.1:n.8227T>A
ENST00000665585.1:c.784T>A
ENST00000680887.1:c.8219T>A	ENSP00000505508.1:p.Leu2740Ter
ENST00000380152.7:c.8219T>A	ENSP00000369497.3:p.Leu2740Ter
ENST00000544455.5:c.8219T>A	ENSP00000439902.1:p.Leu2740Ter
NM_000059.3:c.8219T>A , LRG_293t1:c.8219T>A	NP_000050.2:p.Leu2740Ter
XM_011535203.1:c.8219T>A	XP_011533505.1:p.Leu2740Ter
XM_011535204.1:c.8123T>A	XP_011533506.1:p.Leu2708Ter
XM_011535205.1:c.8219T>A	XP_011533507.1:p.Leu2740Ter
NM_000059.4:c.8219T>A MANE Select	NP_000050.3:p.Leu2740Ter