Canonical Allele Identifier: CA6941303

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2835236
• ClinVar RCV Id: RCV003645797
• dbSNP Id: rs779091957
• ExAC: 13:32953521 A / G
• gnomAD v2: 13-32953521-A-G
• gnomAD v4: 13-32379384-A-G
• MyVariant Identifiers: chr13:g.32953521A>G (hg19) ; chr13:g.32379384A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379384A>G , CM000675.2:g.32379384A>G	GRCh38
NC_000013.10:g.32953521A>G , CM000675.1:g.32953521A>G	GRCh37
NC_000013.9:g.31851521A>G	NCBI36
NG_012772.3:g.68905A>G , LRG_293:g.68905A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8822A>G	ENSP00000434898.2:p.Gln2941Arg
ENST00000528762.2:c.*189A>G	ENSP00000433168.2:n.*189A>G
ENST00000530893.7:c.8453A>G	ENSP00000499438.2:p.Gln2818Arg
ENST00000665585.2:c.*384A>G	ENSP00000499570.2:n.*384A>G
ENST00000666593.2:c.8822A>G	ENSP00000499256.2:p.Gln2941Arg
ENST00000700202.2:c.8822A>G	ENSP00000514856.2:p.Gln2941Arg
ENST00000700202.1:c.1289A>G	ENSP00000514856.1:p.Gln430Arg
ENST00000700203.1:n.949A>G
ENST00000380152.8:c.8822A>G MANE Select	ENSP00000369497.3:p.Gln2941Arg
ENST00000544455.6:c.8822A>G	ENSP00000439902.1:p.Gln2941Arg
ENST00000614259.2:c.8830A>G	ENSP00000506251.1:n.8830A>G
ENST00000665585.1:c.1700A>G
ENST00000680887.1:c.8822A>G	ENSP00000505508.1:p.Gln2941Arg
ENST00000380152.7:c.8822A>G	ENSP00000369497.3:p.Gln2941Arg
ENST00000528762.1:c.384A>G	ENSP00000433168.1:n.384A>G
ENST00000544455.5:c.8822A>G	ENSP00000439902.1:p.Gln2941Arg
NM_000059.3:c.8822A>G , LRG_293t1:c.8822A>G	NP_000050.2:p.Gln2941Arg
XM_011535203.1:c.8822A>G	XP_011533505.1:p.Gln2941Arg
XM_011535204.1:c.8726A>G	XP_011533506.1:p.Gln2909Arg
XM_011535205.1:c.8755-366A>G	XP_011533507.1:n.8755-366A>G
NM_000059.4:c.8822A>G MANE Select	NP_000050.3:p.Gln2941Arg