Canonical Allele Identifier: CA025666

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38161
• ClinVar RCV Id: RCV000031744 ; RCV000510027 ; RCV000590582 ; RCV001170976 ; RCV001284445
• dbSNP Id: rs80359100
• gnomAD v4: 13-32370556-A-G
• MyVariant Identifiers: chr13:g.32944693A>G (hg19) ; chr13:g.32370556A>G (hg38)
• PubMed: PMID:12601471 ; PMID:16489001 ; PMID:22505045 ; PMID:22762150 ; PMID:27616075

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370556A>G , CM000675.2:g.32370556A>G	GRCh38
NC_000013.10:g.32944693A>G , CM000675.1:g.32944693A>G	GRCh37
NC_000013.9:g.31842693A>G	NCBI36
NG_012772.3:g.60077A>G , LRG_293:g.60077A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8486A>G	ENSP00000434898.2:p.Gln2829Arg
ENST00000528762.2:c.8486A>G	ENSP00000433168.2:p.Gln2829Arg
ENST00000530893.7:c.8117A>G	ENSP00000499438.2:p.Gln2706Arg
ENST00000665585.2:c.8486A>G	ENSP00000499570.2:p.Gln2829Arg
ENST00000666593.2:c.8486A>G	ENSP00000499256.2:p.Gln2829Arg
ENST00000700202.2:c.8486A>G	ENSP00000514856.2:p.Gln2829Arg
ENST00000700202.1:c.953A>G	ENSP00000514856.1:p.Gln318Arg
ENST00000380152.8:c.8486A>G MANE Select	ENSP00000369497.3:p.Gln2829Arg
ENST00000544455.6:c.8486A>G	ENSP00000439902.1:p.Gln2829Arg
ENST00000614259.2:c.8494A>G	ENSP00000506251.1:n.8494A>G
ENST00000665585.1:c.1051A>G
ENST00000680887.1:c.8486A>G	ENSP00000505508.1:p.Gln2829Arg
ENST00000380152.7:c.8486A>G	ENSP00000369497.3:p.Gln2829Arg
ENST00000544455.5:c.8486A>G	ENSP00000439902.1:p.Gln2829Arg
NM_000059.3:c.8486A>G , LRG_293t1:c.8486A>G	NP_000050.2:p.Gln2829Arg
XM_011535203.1:c.8486A>G	XP_011533505.1:p.Gln2829Arg
XM_011535204.1:c.8390A>G	XP_011533506.1:p.Gln2797Arg
XM_011535205.1:c.8486A>G	XP_011533507.1:p.Gln2829Arg
NM_000059.4:c.8486A>G MANE Select	NP_000050.3:p.Gln2829Arg