Canonical Allele Identifier: CA483270967

Gene: BRCA2

Linked Data

• dbSNP Id: rs1043050140
• MyVariant Identifiers: chr13:g.32968833C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394696C>G , CM000675.2:g.32394696C>G	GRCh38
NC_000013.10:g.32968833C>G , CM000675.1:g.32968833C>G	GRCh37
NC_000013.9:g.31866833C>G	NCBI36
NG_012772.3:g.84217C>G , LRG_293:g.84217C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9264C>G	ENSP00000434898.2:p.Ala3088=
ENST00000528762.2:c.*631C>G	ENSP00000433168.2:n.*631C>G
ENST00000530893.7:c.8895C>G	ENSP00000499438.2:p.Ala2965=
ENST00000665585.2:c.*826C>G	ENSP00000499570.2:n.*826C>G
ENST00000666593.2:c.*109C>G	ENSP00000499256.2:n.*109C>G
ENST00000700202.2:c.9213C>G	ENSP00000514856.2:p.Ala3071=
ENST00000700202.1:c.1680C>G	ENSP00000514856.1:p.Ala560=
ENST00000700203.1:n.1391C>G
ENST00000380152.8:c.9264C>G MANE Select	ENSP00000369497.3:p.Ala3088=
ENST00000544455.6:c.9264C>G	ENSP00000439902.1:p.Ala3088=
ENST00000614259.2:c.9272C>G	ENSP00000506251.1:n.9272C>G
ENST00000665585.1:c.2142C>G
ENST00000666593.1:c.286C>G	ENSP00000499256.1:n.286C>G
ENST00000680887.1:c.9264C>G	ENSP00000505508.1:p.Ala3088=
ENST00000380152.7:c.9264C>G	ENSP00000369497.3:p.Ala3088=
ENST00000470094.1:c.221C>G
ENST00000544455.5:c.9264C>G	ENSP00000439902.1:p.Ala3088=
NM_000059.3:c.9264C>G , LRG_293t1:c.9264C>G	NP_000050.2:p.Ala3088=
XM_011535203.1:c.9264C>G	XP_011533505.1:p.Ala3088=
XM_011535204.1:c.9168C>G	XP_011533506.1:p.Ala3056=
NM_000059.4:c.9264C>G MANE Select	NP_000050.3:p.Ala3088=