Canonical Allele Identifier: CA025703

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52617
• ClinVar RCV Id: RCV000045552 ; RCV000077445 ; RCV000162806 ; RCV000508013 ; RCV000827098
• dbSNP Id: rs80359109
• gnomAD v2: 13-32945150-A-G
• gnomAD v3: 13-32371013-A-G
• gnomAD v4: 13-32371013-A-G
• MyVariant Identifiers: chr13:g.32945150A>G (hg19) ; chr13:g.32371013A>G (hg38)
• PubMed: PMID:10923033 ; PMID:19043619

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32371013A>G , CM000675.2:g.32371013A>G	GRCh38
NC_000013.10:g.32945150A>G , CM000675.1:g.32945150A>G	GRCh37
NC_000013.9:g.31843150A>G	NCBI36
NG_012772.3:g.60534A>G , LRG_293:g.60534A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8545A>G	ENSP00000434898.2:p.Lys2849Glu
ENST00000528762.2:c.8545A>G	ENSP00000433168.2:p.Lys2849Glu
ENST00000530893.7:c.8176A>G	ENSP00000499438.2:p.Lys2726Glu
ENST00000665585.2:c.8545A>G	ENSP00000499570.2:p.Lys2849Glu
ENST00000666593.2:c.8545A>G	ENSP00000499256.2:p.Lys2849Glu
ENST00000700202.2:c.8545A>G	ENSP00000514856.2:p.Lys2849Glu
ENST00000700202.1:c.1012A>G	ENSP00000514856.1:p.Lys338Glu
ENST00000380152.8:c.8545A>G MANE Select	ENSP00000369497.3:p.Lys2849Glu
ENST00000544455.6:c.8545A>G	ENSP00000439902.1:p.Lys2849Glu
ENST00000614259.2:c.8553A>G	ENSP00000506251.1:n.8553A>G
ENST00000665585.1:c.1110A>G
ENST00000680887.1:c.8545A>G	ENSP00000505508.1:p.Lys2849Glu
ENST00000380152.7:c.8545A>G	ENSP00000369497.3:p.Lys2849Glu
ENST00000528762.1:c.43A>G	ENSP00000433168.1:p.Lys15Glu
ENST00000544455.5:c.8545A>G	ENSP00000439902.1:p.Lys2849Glu
NM_000059.3:c.8545A>G , LRG_293t1:c.8545A>G	NP_000050.2:p.Lys2849Glu
XM_011535203.1:c.8545A>G	XP_011533505.1:p.Lys2849Glu
XM_011535204.1:c.8449A>G	XP_011533506.1:p.Lys2817Glu
XM_011535205.1:c.8545A>G	XP_011533507.1:p.Lys2849Glu
NM_000059.4:c.8545A>G MANE Select	NP_000050.3:p.Lys2849Glu