Canonical Allele Identifier: CA387763194

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 957872
• ClinVar RCV Id: RCV001230937
• dbSNP Id: rs2073040676
• MyVariant Identifiers: chr13:g.32971082A>G (hg19) ; chr13:g.32396945A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396945A>G , CM000675.2:g.32396945A>G	GRCh38
NC_000013.10:g.32971082A>G , CM000675.1:g.32971082A>G	GRCh37
NC_000013.9:g.31869082A>G	NCBI36
NG_012772.3:g.86466A>G , LRG_293:g.86466A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*72A>G	ENSP00000434898.2:n.*72A>G
ENST00000528762.2:c.*916A>G	ENSP00000433168.2:n.*916A>G
ENST00000530893.7:c.9180A>G	ENSP00000499438.2:p.Ile3060Met
ENST00000665585.2:c.*1111A>G	ENSP00000499570.2:n.*1111A>G
ENST00000700202.2:c.9498A>G	ENSP00000514856.2:p.Ile3166Met
ENST00000700202.1:c.1965A>G	ENSP00000514856.1:p.Ile655Met
ENST00000700203.1:n.1676A>G
ENST00000380152.8:c.9549A>G MANE Select	ENSP00000369497.3:p.Ile3183Met
ENST00000544455.6:c.9549A>G	ENSP00000439902.1:p.Ile3183Met
ENST00000614259.2:c.9557A>G	ENSP00000506251.1:n.9557A>G
ENST00000665585.1:c.2427A>G
ENST00000680887.1:c.9549A>G	ENSP00000505508.1:p.Ile3183Met
ENST00000380152.7:c.9549A>G	ENSP00000369497.3:p.Ile3183Met
ENST00000470094.1:c.632A>G
ENST00000533776.1:n.137A>G
ENST00000544455.5:c.9549A>G	ENSP00000439902.1:p.Ile3183Met
NM_000059.3:c.9549A>G , LRG_293t1:c.9549A>G	NP_000050.2:p.Ile3183Met
XM_011535203.1:c.9549A>G	XP_011533505.1:p.Ile3183Met
XM_011535204.1:c.9453A>G	XP_011533506.1:p.Ile3151Met
NM_000059.4:c.9549A>G MANE Select	NP_000050.3:p.Ile3183Met