Canonical Allele Identifier: CA387765950

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 823474
• ClinVar RCV Id: RCV001019741
• dbSNP Id: rs1566261012
• MyVariant Identifiers: chr13:g.32972435A>G (hg19) ; chr13:g.32398298A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398298A>G , CM000675.2:g.32398298A>G	GRCh38
NC_000013.10:g.32972435A>G , CM000675.1:g.32972435A>G	GRCh37
NC_000013.9:g.31870435A>G	NCBI36
NG_012772.3:g.87819A>G , LRG_293:g.87819A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*308A>G	ENSP00000434898.2:n.*308A>G
ENST00000528762.2:c.*1152A>G	ENSP00000433168.2:n.*1152A>G
ENST00000530893.7:c.9416A>G	ENSP00000499438.2:p.Gln3139Arg
ENST00000665585.2:c.*1347A>G	ENSP00000499570.2:n.*1347A>G
ENST00000700202.2:c.9734A>G	ENSP00000514856.2:p.Gln3245Arg
ENST00000700202.1:c.2201A>G	ENSP00000514856.1:p.Gln734Arg
ENST00000700203.1:n.1912A>G
ENST00000380152.8:c.9785A>G MANE Select	ENSP00000369497.3:p.Gln3262Arg
ENST00000544455.6:c.9785A>G	ENSP00000439902.1:p.Gln3262Arg
ENST00000614259.2:c.9793A>G	ENSP00000506251.1:n.9793A>G
ENST00000680887.1:c.9785A>G	ENSP00000505508.1:p.Gln3262Arg
ENST00000380152.7:c.9785A>G	ENSP00000369497.3:p.Gln3262Arg
ENST00000533776.1:n.373A>G
ENST00000544455.5:c.9785A>G	ENSP00000439902.1:p.Gln3262Arg
NM_000059.3:c.9785A>G , LRG_293t1:c.9785A>G	NP_000050.2:p.Gln3262Arg
XM_011535203.1:c.9785A>G	XP_011533505.1:p.Gln3262Arg
XM_011535204.1:c.9689A>G	XP_011533506.1:p.Gln3230Arg
NM_000059.4:c.9785A>G MANE Select	NP_000050.3:p.Gln3262Arg