Canonical Allele Identifier: CA025701

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 141633
• ClinVar RCV Id: RCV000130229 ; RCV000257963 ; RCV000768608 ; RCV003477542
• dbSNP Id: rs587781893
• MyVariant Identifiers: chr13:g.32945147G>C (hg19) ; chr13:g.32371010G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32371010G>C , CM000675.2:g.32371010G>C	GRCh38
NC_000013.10:g.32945147G>C , CM000675.1:g.32945147G>C	GRCh37
NC_000013.9:g.31843147G>C	NCBI36
NG_012772.3:g.60531G>C , LRG_293:g.60531G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8542G>C	ENSP00000434898.2:p.Glu2848Gln
ENST00000528762.2:c.8542G>C	ENSP00000433168.2:p.Glu2848Gln
ENST00000530893.7:c.8173G>C	ENSP00000499438.2:p.Glu2725Gln
ENST00000665585.2:c.8542G>C	ENSP00000499570.2:p.Glu2848Gln
ENST00000666593.2:c.8542G>C	ENSP00000499256.2:p.Glu2848Gln
ENST00000700202.2:c.8542G>C	ENSP00000514856.2:p.Glu2848Gln
ENST00000700202.1:c.1009G>C	ENSP00000514856.1:p.Glu337Gln
ENST00000380152.8:c.8542G>C MANE Select	ENSP00000369497.3:p.Glu2848Gln
ENST00000544455.6:c.8542G>C	ENSP00000439902.1:p.Glu2848Gln
ENST00000614259.2:c.8550G>C	ENSP00000506251.1:n.8550G>C
ENST00000665585.1:c.1107G>C
ENST00000680887.1:c.8542G>C	ENSP00000505508.1:p.Glu2848Gln
ENST00000380152.7:c.8542G>C	ENSP00000369497.3:p.Glu2848Gln
ENST00000528762.1:c.40G>C	ENSP00000433168.1:p.Glu14Gln
ENST00000544455.5:c.8542G>C	ENSP00000439902.1:p.Glu2848Gln
NM_000059.3:c.8542G>C , LRG_293t1:c.8542G>C	NP_000050.2:p.Glu2848Gln
XM_011535203.1:c.8542G>C	XP_011533505.1:p.Glu2848Gln
XM_011535204.1:c.8446G>C	XP_011533506.1:p.Glu2816Gln
XM_011535205.1:c.8542G>C	XP_011533507.1:p.Glu2848Gln
NM_000059.4:c.8542G>C MANE Select	NP_000050.3:p.Glu2848Gln