Canonical Allele Identifier: CA387752677

Gene: BRCA2

Linked Data

• dbSNP Id: rs1555287732
• gnomAD v3: 13-32370965-A-G
• gnomAD v4: 13-32370965-A-G
• MyVariant Identifiers: chr13:g.32945102A>G (hg19) ; chr13:g.32370965A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370965A>G , CM000675.2:g.32370965A>G	GRCh38
NC_000013.10:g.32945102A>G , CM000675.1:g.32945102A>G	GRCh37
NC_000013.9:g.31843102A>G	NCBI36
NG_012772.3:g.60486A>G , LRG_293:g.60486A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8497A>G	ENSP00000434898.2:p.Lys2833Glu
ENST00000528762.2:c.8497A>G	ENSP00000433168.2:p.Lys2833Glu
ENST00000530893.7:c.8128A>G	ENSP00000499438.2:p.Lys2710Glu
ENST00000665585.2:c.8497A>G	ENSP00000499570.2:p.Lys2833Glu
ENST00000666593.2:c.8497A>G	ENSP00000499256.2:p.Lys2833Glu
ENST00000700202.2:c.8497A>G	ENSP00000514856.2:p.Lys2833Glu
ENST00000700202.1:c.964A>G	ENSP00000514856.1:p.Lys322Glu
ENST00000380152.8:c.8497A>G MANE Select	ENSP00000369497.3:p.Lys2833Glu
ENST00000544455.6:c.8497A>G	ENSP00000439902.1:p.Lys2833Glu
ENST00000614259.2:c.8505A>G	ENSP00000506251.1:n.8505A>G
ENST00000665585.1:c.1062A>G
ENST00000680887.1:c.8497A>G	ENSP00000505508.1:p.Lys2833Glu
ENST00000380152.7:c.8497A>G	ENSP00000369497.3:p.Lys2833Glu
ENST00000544455.5:c.8497A>G	ENSP00000439902.1:p.Lys2833Glu
NM_000059.3:c.8497A>G , LRG_293t1:c.8497A>G	NP_000050.2:p.Lys2833Glu
XM_011535203.1:c.8497A>G	XP_011533505.1:p.Lys2833Glu
XM_011535204.1:c.8401A>G	XP_011533506.1:p.Lys2801Glu
XM_011535205.1:c.8497A>G	XP_011533507.1:p.Lys2833Glu
NM_000059.4:c.8497A>G MANE Select	NP_000050.3:p.Lys2833Glu