Canonical Allele Identifier: CA010114

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 185750
• ClinVar RCV Id: RCV000165234 ; RCV000495583
• dbSNP Id: rs754254199
• ExAC: 13:32972703 T / C
• gnomAD v2: 13-32972703-T-C
• gnomAD v4: 13-32398566-T-C
• MyVariant Identifiers: chr13:g.32972703T>C (hg19) ; chr13:g.32398566T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398566T>C , CM000675.2:g.32398566T>C	GRCh38
NC_000013.10:g.32972703T>C , CM000675.1:g.32972703T>C	GRCh37
NC_000013.9:g.31870703T>C	NCBI36
NG_012772.3:g.88087T>C , LRG_293:g.88087T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*576T>C	ENSP00000434898.2:n.*576T>C
ENST00000528762.2:c.*1420T>C	ENSP00000433168.2:n.*1420T>C
ENST00000530893.7:c.9684T>C	ENSP00000499438.2:p.Ala3228=
ENST00000665585.2:c.*1615T>C	ENSP00000499570.2:n.*1615T>C
ENST00000700202.2:c.10002T>C	ENSP00000514856.2:p.Ala3334=
ENST00000700202.1:c.2469T>C	ENSP00000514856.1:p.Ala823=
ENST00000700203.1:n.2180T>C
ENST00000380152.8:c.10053T>C MANE Select	ENSP00000369497.3:p.Ala3351=
ENST00000544455.6:c.10053T>C	ENSP00000439902.1:p.Ala3351=
ENST00000614259.2:c.10061T>C	ENSP00000506251.1:n.10061T>C
ENST00000680887.1:c.10053T>C	ENSP00000505508.1:p.Ala3351=
ENST00000380152.7:c.10053T>C	ENSP00000369497.3:p.Ala3351=
ENST00000544455.5:c.10053T>C	ENSP00000439902.1:p.Ala3351=
NM_000059.3:c.10053T>C , LRG_293t1:c.10053T>C	NP_000050.2:p.Ala3351=
XM_011535203.1:c.10053T>C	XP_011533505.1:p.Ala3351=
XM_011535204.1:c.9957T>C	XP_011533506.1:p.Ala3319=
NM_000059.4:c.10053T>C MANE Select	NP_000050.3:p.Ala3351=