Canonical Allele Identifier: CA2082833809

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1045833
• ClinVar RCV Id: RCV001350310
• dbSNP Id: rs2073048863

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398156T>G , CM000675.2:g.32398156T>G	GRCh38
NC_000013.10:g.32972293T>G , CM000675.1:g.32972293T>G	GRCh37
NC_000013.9:g.31870293T>G	NCBI36
NG_012772.3:g.87677T>G , LRG_293:g.87677T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*172-6T>G	ENSP00000434898.2:n.*172-6T>G
ENST00000528762.2:c.*1016-6T>G	ENSP00000433168.2:n.*1016-6T>G
ENST00000530893.7:c.9280-6T>G	ENSP00000499438.2:n.9280-6T>G
ENST00000665585.2:c.*1211-6T>G	ENSP00000499570.2:n.*1211-6T>G
ENST00000700202.2:c.9598-6T>G	ENSP00000514856.2:n.9598-6T>G
ENST00000700202.1:c.2065-6T>G	ENSP00000514856.1:n.2065-6T>G
ENST00000700203.1:n.1776-6T>G
ENST00000380152.8:c.9649-6T>G MANE Select	ENSP00000369497.3:n.9649-6T>G
ENST00000544455.6:c.9649-6T>G	ENSP00000439902.1:n.9649-6T>G
ENST00000614259.2:c.9657-6T>G	ENSP00000506251.1:n.9657-6T>G
ENST00000665585.1:c.2527-6T>G
ENST00000680887.1:c.9649-6T>G	ENSP00000505508.1:n.9649-6T>G
ENST00000380152.7:c.9649-6T>G	ENSP00000369497.3:n.9649-6T>G
ENST00000470094.1:c.732-6T>G
ENST00000533776.1:n.237-6T>G
ENST00000544455.5:c.9649-6T>G	ENSP00000439902.1:n.9649-6T>G
NM_000059.3:c.9649-6T>G , LRG_293t1:c.9649-6T>G	NP_000050.2:n.9649-6T>G
XM_011535203.1:c.9649-6T>G	XP_011533505.1:n.9649-6T>G
XM_011535204.1:c.9553-6T>G	XP_011533506.1:n.9553-6T>G
NM_000059.4:c.9649-6T>G MANE Select	NP_000050.3:n.9649-6T>G