Canonical Allele Identifier: CA026056

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 182301
• ClinVar RCV Id: RCV000160256 ; RCV000556772
• dbSNP Id: rs730881597
• ExAC: 13:32954295 A / G
• gnomAD v2: 13-32954295-A-G
• gnomAD v3: 13-32380158-A-G
• gnomAD v4: 13-32380158-A-G
• MyVariant Identifiers: chr13:g.32954295A>G (hg19) ; chr13:g.32380158A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380158A>G , CM000675.2:g.32380158A>G	GRCh38
NC_000013.10:g.32954295A>G , CM000675.1:g.32954295A>G	GRCh37
NC_000013.9:g.31852295A>G	NCBI36
NG_012772.3:g.69679A>G , LRG_293:g.69679A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9256+13A>G	ENSP00000434898.2:n.9256+13A>G
ENST00000528762.2:c.*623+13A>G	ENSP00000433168.2:n.*623+13A>G
ENST00000530893.7:c.8887+13A>G	ENSP00000499438.2:n.8887+13A>G
ENST00000665585.2:c.*818+13A>G	ENSP00000499570.2:n.*818+13A>G
ENST00000666593.2:c.9256+13A>G	ENSP00000499256.2:n.9256+13A>G
ENST00000700202.2:c.9205+13A>G	ENSP00000514856.2:n.9205+13A>G
ENST00000700202.1:c.1672+13A>G	ENSP00000514856.1:n.1672+13A>G
ENST00000700203.1:n.1383+13A>G
ENST00000380152.8:c.9256+13A>G MANE Select	ENSP00000369497.3:n.9256+13A>G
ENST00000544455.6:c.9256+13A>G	ENSP00000439902.1:n.9256+13A>G
ENST00000614259.2:c.9264+13A>G	ENSP00000506251.1:n.9264+13A>G
ENST00000665585.1:c.2134+13A>G
ENST00000666593.1:c.139+13A>G	ENSP00000499256.1:n.139+13A>G
ENST00000680887.1:c.9256+13A>G	ENSP00000505508.1:n.9256+13A>G
ENST00000380152.7:c.9256+13A>G	ENSP00000369497.3:n.9256+13A>G
ENST00000470094.1:c.213+13A>G
ENST00000544455.5:c.9256+13A>G	ENSP00000439902.1:n.9256+13A>G
NM_000059.3:c.9256+13A>G , LRG_293t1:c.9256+13A>G	NP_000050.2:n.9256+13A>G
XM_011535203.1:c.9256+13A>G	XP_011533505.1:n.9256+13A>G
XM_011535204.1:c.9160+13A>G	XP_011533506.1:n.9160+13A>G
NM_000059.4:c.9256+13A>G MANE Select	NP_000050.3:n.9256+13A>G