Canonical Allele Identifier: CA16619778

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 419918
• ClinVar RCV Id: RCV000484683 ; RCV000563964 ; RCV001068956 ; RCV004003313
• dbSNP Id: rs1064794185
• gnomAD v4: 13-32363507-G-C
• MyVariant Identifiers: chr13:g.32937644G>C (hg19) ; chr13:g.32363507G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363507G>C , CM000675.2:g.32363507G>C	GRCh38
NC_000013.10:g.32937644G>C , CM000675.1:g.32937644G>C	GRCh37
NC_000013.9:g.31835644G>C	NCBI36
NG_012772.3:g.53028G>C , LRG_293:g.53028G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8305G>C	ENSP00000434898.2:p.Glu2769Gln
ENST00000528762.2:c.8305G>C	ENSP00000433168.2:p.Glu2769Gln
ENST00000530893.7:c.7936G>C	ENSP00000499438.2:p.Glu2646Gln
ENST00000665585.2:c.8305G>C	ENSP00000499570.2:p.Glu2769Gln
ENST00000666593.2:c.8305G>C	ENSP00000499256.2:p.Glu2769Gln
ENST00000700202.2:c.8305G>C	ENSP00000514856.2:p.Glu2769Gln
ENST00000700202.1:c.772G>C	ENSP00000514856.1:p.Glu258Gln
ENST00000380152.8:c.8305G>C MANE Select	ENSP00000369497.3:p.Glu2769Gln
ENST00000544455.6:c.8305G>C	ENSP00000439902.1:p.Glu2769Gln
ENST00000614259.2:c.8313G>C	ENSP00000506251.1:n.8313G>C
ENST00000665585.1:c.870G>C
ENST00000680887.1:c.8305G>C	ENSP00000505508.1:p.Glu2769Gln
ENST00000380152.7:c.8305G>C	ENSP00000369497.3:p.Glu2769Gln
ENST00000544455.5:c.8305G>C	ENSP00000439902.1:p.Glu2769Gln
NM_000059.3:c.8305G>C , LRG_293t1:c.8305G>C	NP_000050.2:p.Glu2769Gln
XM_011535203.1:c.8305G>C	XP_011533505.1:p.Glu2769Gln
XM_011535204.1:c.8209G>C	XP_011533506.1:p.Glu2737Gln
XM_011535205.1:c.8305G>C	XP_011533507.1:p.Glu2769Gln
NM_000059.4:c.8305G>C MANE Select	NP_000050.3:p.Glu2769Gln