Canonical Allele Identifier: CA387763259

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 573723
• ClinVar RCV Id: RCV003163192
• dbSNP Id: rs1329182873
• gnomAD v2: 13-32971093-A-G
• gnomAD v4: 13-32396956-A-G
• MyVariant Identifiers: chr13:g.32971093A>G (hg19) ; chr13:g.32396956A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396956A>G , CM000675.2:g.32396956A>G	GRCh38
NC_000013.10:g.32971093A>G , CM000675.1:g.32971093A>G	GRCh37
NC_000013.9:g.31869093A>G	NCBI36
NG_012772.3:g.86477A>G , LRG_293:g.86477A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*83A>G	ENSP00000434898.2:n.*83A>G
ENST00000528762.2:c.*927A>G	ENSP00000433168.2:n.*927A>G
ENST00000530893.7:c.9191A>G	ENSP00000499438.2:p.Asn3064Ser
ENST00000665585.2:c.*1122A>G	ENSP00000499570.2:n.*1122A>G
ENST00000700202.2:c.9509A>G	ENSP00000514856.2:p.Asn3170Ser
ENST00000700202.1:c.1976A>G	ENSP00000514856.1:p.Asn659Ser
ENST00000700203.1:n.1687A>G
ENST00000380152.8:c.9560A>G MANE Select	ENSP00000369497.3:p.Asn3187Ser
ENST00000544455.6:c.9560A>G	ENSP00000439902.1:p.Asn3187Ser
ENST00000614259.2:c.9568A>G	ENSP00000506251.1:n.9568A>G
ENST00000665585.1:c.2438A>G
ENST00000680887.1:c.9560A>G	ENSP00000505508.1:p.Asn3187Ser
ENST00000380152.7:c.9560A>G	ENSP00000369497.3:p.Asn3187Ser
ENST00000470094.1:c.643A>G
ENST00000533776.1:n.148A>G
ENST00000544455.5:c.9560A>G	ENSP00000439902.1:p.Asn3187Ser
NM_000059.3:c.9560A>G , LRG_293t1:c.9560A>G	NP_000050.2:p.Asn3187Ser
XM_011535203.1:c.9560A>G	XP_011533505.1:p.Asn3187Ser
XM_011535204.1:c.9464A>G	XP_011533506.1:p.Asn3155Ser
NM_000059.4:c.9560A>G MANE Select	NP_000050.3:p.Asn3187Ser