Canonical Allele Identifier: CA387767944

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972734T>G (hg19) ; chr13:g.32398597T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398597T>G , CM000675.2:g.32398597T>G	GRCh38
NC_000013.10:g.32972734T>G , CM000675.1:g.32972734T>G	GRCh37
NC_000013.9:g.31870734T>G	NCBI36
NG_012772.3:g.88118T>G , LRG_293:g.88118T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*607T>G	ENSP00000434898.2:n.*607T>G
ENST00000528762.2:c.*1451T>G	ENSP00000433168.2:n.*1451T>G
ENST00000530893.7:c.9715T>G	ENSP00000499438.2:p.Phe3239Val
ENST00000665585.2:c.*1646T>G	ENSP00000499570.2:n.*1646T>G
ENST00000700202.2:c.10033T>G	ENSP00000514856.2:p.Phe3345Val
ENST00000700202.1:c.2500T>G	ENSP00000514856.1:p.Phe834Val
ENST00000700203.1:n.2211T>G
ENST00000380152.8:c.10084T>G MANE Select	ENSP00000369497.3:p.Phe3362Val
ENST00000544455.6:c.10084T>G	ENSP00000439902.1:p.Phe3362Val
ENST00000614259.2:c.10092T>G	ENSP00000506251.1:n.10092T>G
ENST00000680887.1:c.10084T>G	ENSP00000505508.1:p.Phe3362Val
ENST00000380152.7:c.10084T>G	ENSP00000369497.3:p.Phe3362Val
ENST00000544455.5:c.10084T>G	ENSP00000439902.1:p.Phe3362Val
NM_000059.3:c.10084T>G , LRG_293t1:c.10084T>G	NP_000050.2:p.Phe3362Val
XM_011535203.1:c.10084T>G	XP_011533505.1:p.Phe3362Val
XM_011535204.1:c.9988T>G	XP_011533506.1:p.Phe3330Val
NM_000059.4:c.10084T>G MANE Select	NP_000050.3:p.Phe3362Val