Canonical Allele Identifier: CA6941054

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 826796
• ClinVar RCV Id: RCV001025964 ; RCV001216628 ; RCV003493780
• dbSNP Id: rs747817752
• ExAC: 13:32929033 A / G
• gnomAD v2: 13-32929033-A-G
• gnomAD v4: 13-32354896-A-G
• MyVariant Identifiers: chr13:g.32929033A>G (hg19) ; chr13:g.32354896A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32354896A>G , CM000675.2:g.32354896A>G	GRCh38
NC_000013.10:g.32929033A>G , CM000675.1:g.32929033A>G	GRCh37
NC_000013.9:g.31827033A>G	NCBI36
NG_012772.3:g.44417A>G , LRG_293:g.44417A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7043A>G	ENSP00000434898.2:p.Asn2348Ser
ENST00000528762.2:c.7043A>G	ENSP00000433168.2:p.Asn2348Ser
ENST00000530893.7:c.6674A>G	ENSP00000499438.2:p.Asn2225Ser
ENST00000665585.2:c.7043A>G	ENSP00000499570.2:p.Asn2348Ser
ENST00000666593.2:c.7043A>G	ENSP00000499256.2:p.Asn2348Ser
ENST00000700202.2:c.7043A>G	ENSP00000514856.2:p.Asn2348Ser
ENST00000380152.8:c.7043A>G MANE Select	ENSP00000369497.3:p.Asn2348Ser
ENST00000544455.6:c.7043A>G	ENSP00000439902.1:p.Asn2348Ser
ENST00000614259.2:c.7043A>G	ENSP00000506251.1:p.Asn2348Ser
ENST00000680887.1:c.7043A>G	ENSP00000505508.1:p.Asn2348Ser
ENST00000380152.7:c.7043A>G	ENSP00000369497.3:p.Asn2348Ser
ENST00000544455.5:c.7043A>G	ENSP00000439902.1:p.Asn2348Ser
ENST00000614259.1:n.7043A>G
NM_000059.3:c.7043A>G , LRG_293t1:c.7043A>G	NP_000050.2:p.Asn2348Ser
XM_011535203.1:c.7043A>G	XP_011533505.1:p.Asn2348Ser
XM_011535204.1:c.6947A>G	XP_011533506.1:p.Asn2316Ser
XM_011535205.1:c.7043A>G	XP_011533507.1:p.Asn2348Ser
NM_000059.4:c.7043A>G MANE Select	NP_000050.3:p.Asn2348Ser