Canonical Allele Identifier: CA483440038

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1768741
• ClinVar RCV Id: RCV002382958
• dbSNP Id: rs2137665356
• MyVariant Identifiers: chr13:g.32972610T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398473T>A , CM000675.2:g.32398473T>A	GRCh38
NC_000013.10:g.32972610T>A , CM000675.1:g.32972610T>A	GRCh37
NC_000013.9:g.31870610T>A	NCBI36
NG_012772.3:g.87994T>A , LRG_293:g.87994T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*483T>A	ENSP00000434898.2:n.*483T>A
ENST00000528762.2:c.*1327T>A	ENSP00000433168.2:n.*1327T>A
ENST00000530893.7:c.9591T>A	ENSP00000499438.2:p.Pro3197=
ENST00000665585.2:c.*1522T>A	ENSP00000499570.2:n.*1522T>A
ENST00000700202.2:c.9909T>A	ENSP00000514856.2:p.Pro3303=
ENST00000700202.1:c.2376T>A	ENSP00000514856.1:p.Pro792=
ENST00000700203.1:n.2087T>A
ENST00000380152.8:c.9960T>A MANE Select	ENSP00000369497.3:p.Pro3320=
ENST00000544455.6:c.9960T>A	ENSP00000439902.1:p.Pro3320=
ENST00000614259.2:c.9968T>A	ENSP00000506251.1:n.9968T>A
ENST00000680887.1:c.9960T>A	ENSP00000505508.1:p.Pro3320=
ENST00000380152.7:c.9960T>A	ENSP00000369497.3:p.Pro3320=
ENST00000544455.5:c.9960T>A	ENSP00000439902.1:p.Pro3320=
NM_000059.3:c.9960T>A , LRG_293t1:c.9960T>A	NP_000050.2:p.Pro3320=
XM_011535203.1:c.9960T>A	XP_011533505.1:p.Pro3320=
XM_011535204.1:c.9864T>A	XP_011533506.1:p.Pro3288=
NM_000059.4:c.9960T>A MANE Select	NP_000050.3:p.Pro3320=