Canonical Allele Identifier: CA387763255

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 483016
• ClinVar RCV Id: RCV000565559
• dbSNP Id: rs1329182873
• MyVariant Identifiers: chr13:g.32971093A>C (hg19) ; chr13:g.32396956A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*83A>C	ENSP00000434898.2:n.*83A>C
ENST00000528762.2:c.*927A>C	ENSP00000433168.2:n.*927A>C
ENST00000530893.7:c.9191A>C	ENSP00000499438.2:p.Asn3064Thr
ENST00000665585.2:c.*1122A>C	ENSP00000499570.2:n.*1122A>C
ENST00000700202.2:c.9509A>C	ENSP00000514856.2:p.Asn3170Thr
ENST00000700202.1:c.1976A>C	ENSP00000514856.1:p.Asn659Thr
ENST00000700203.1:n.1687A>C
ENST00000380152.8:c.9560A>C MANE Select	ENSP00000369497.3:p.Asn3187Thr
ENST00000544455.6:c.9560A>C	ENSP00000439902.1:p.Asn3187Thr
ENST00000614259.2:c.9568A>C	ENSP00000506251.1:n.9568A>C
ENST00000665585.1:c.2438A>C
ENST00000680887.1:c.9560A>C	ENSP00000505508.1:p.Asn3187Thr
ENST00000380152.7:c.9560A>C	ENSP00000369497.3:p.Asn3187Thr
ENST00000470094.1:c.643A>C
ENST00000533776.1:n.148A>C
ENST00000544455.5:c.9560A>C	ENSP00000439902.1:p.Asn3187Thr
NM_000059.3:c.9560A>C , LRG_293t1:c.9560A>C	NP_000050.2:p.Asn3187Thr
XM_011535203.1:c.9560A>C	XP_011533505.1:p.Asn3187Thr
XM_011535204.1:c.9464A>C	XP_011533506.1:p.Asn3155Thr
NM_000059.4:c.9560A>C MANE Select	NP_000050.3:p.Asn3187Thr