Canonical Allele Identifier: CA483261973

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 479322
• ClinVar RCV Id: RCV000574079 ; RCV001284594 ; RCV002526775
• dbSNP Id: rs1555288388
• MyVariant Identifiers: chr13:g.32953579A>G (hg19) ; chr13:g.32379442A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379442A>G , CM000675.2:g.32379442A>G	GRCh38
NC_000013.10:g.32953579A>G , CM000675.1:g.32953579A>G	GRCh37
NC_000013.9:g.31851579A>G	NCBI36
NG_012772.3:g.68963A>G , LRG_293:g.68963A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8880A>G	ENSP00000434898.2:p.Gln2960=
ENST00000528762.2:c.*247A>G	ENSP00000433168.2:n.*247A>G
ENST00000530893.7:c.8511A>G	ENSP00000499438.2:p.Gln2837=
ENST00000665585.2:c.*442A>G	ENSP00000499570.2:n.*442A>G
ENST00000666593.2:c.8880A>G	ENSP00000499256.2:p.Gln2960=
ENST00000700202.2:c.8880A>G	ENSP00000514856.2:p.Gln2960=
ENST00000700202.1:c.1347A>G	ENSP00000514856.1:p.Gln449=
ENST00000700203.1:n.1007A>G
ENST00000380152.8:c.8880A>G MANE Select	ENSP00000369497.3:p.Gln2960=
ENST00000544455.6:c.8880A>G	ENSP00000439902.1:p.Gln2960=
ENST00000614259.2:c.8888A>G	ENSP00000506251.1:n.8888A>G
ENST00000665585.1:c.1758A>G
ENST00000680887.1:c.8880A>G	ENSP00000505508.1:p.Gln2960=
ENST00000380152.7:c.8880A>G	ENSP00000369497.3:p.Gln2960=
ENST00000528762.1:c.442A>G	ENSP00000433168.1:n.442A>G
ENST00000544455.5:c.8880A>G	ENSP00000439902.1:p.Gln2960=
NM_000059.3:c.8880A>G , LRG_293t1:c.8880A>G	NP_000050.2:p.Gln2960=
XM_011535203.1:c.8880A>G	XP_011533505.1:p.Gln2960=
XM_011535204.1:c.8784A>G	XP_011533506.1:p.Gln2928=
XM_011535205.1:c.8755-308A>G	XP_011533507.1:n.8755-308A>G
NM_000059.4:c.8880A>G MANE Select	NP_000050.3:p.Gln2960=