Canonical Allele Identifier: CA387757237

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2701419
• ClinVar RCV Id: RCV003530478
• dbSNP Id: rs2137620314
• MyVariant Identifiers: chr13:g.32953602C>A (hg19) ; chr13:g.32379465C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379465C>A , CM000675.2:g.32379465C>A	GRCh38
NC_000013.10:g.32953602C>A , CM000675.1:g.32953602C>A	GRCh37
NC_000013.9:g.31851602C>A	NCBI36
NG_012772.3:g.68986C>A , LRG_293:g.68986C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8903C>A	ENSP00000434898.2:p.Thr2968Asn
ENST00000528762.2:c.*270C>A	ENSP00000433168.2:n.*270C>A
ENST00000530893.7:c.8534C>A	ENSP00000499438.2:p.Thr2845Asn
ENST00000665585.2:c.*465C>A	ENSP00000499570.2:n.*465C>A
ENST00000666593.2:c.8903C>A	ENSP00000499256.2:p.Thr2968Asn
ENST00000700202.2:c.8903C>A	ENSP00000514856.2:p.Thr2968Asn
ENST00000700202.1:c.1370C>A	ENSP00000514856.1:p.Thr457Asn
ENST00000700203.1:n.1030C>A
ENST00000380152.8:c.8903C>A MANE Select	ENSP00000369497.3:p.Thr2968Asn
ENST00000544455.6:c.8903C>A	ENSP00000439902.1:p.Thr2968Asn
ENST00000614259.2:c.8911C>A	ENSP00000506251.1:n.8911C>A
ENST00000665585.1:c.1781C>A
ENST00000680887.1:c.8903C>A	ENSP00000505508.1:p.Thr2968Asn
ENST00000380152.7:c.8903C>A	ENSP00000369497.3:p.Thr2968Asn
ENST00000528762.1:c.465C>A	ENSP00000433168.1:n.465C>A
ENST00000544455.5:c.8903C>A	ENSP00000439902.1:p.Thr2968Asn
NM_000059.3:c.8903C>A , LRG_293t1:c.8903C>A	NP_000050.2:p.Thr2968Asn
XM_011535203.1:c.8903C>A	XP_011533505.1:p.Thr2968Asn
XM_011535204.1:c.8807C>A	XP_011533506.1:p.Thr2936Asn
XM_011535205.1:c.8755-285C>A	XP_011533507.1:n.8755-285C>A
NM_000059.4:c.8903C>A MANE Select	NP_000050.3:p.Thr2968Asn