Canonical Allele Identifier: CA483439901

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972304T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398167T>G , CM000675.2:g.32398167T>G	GRCh38
NC_000013.10:g.32972304T>G , CM000675.1:g.32972304T>G	GRCh37
NC_000013.9:g.31870304T>G	NCBI36
NG_012772.3:g.87688T>G , LRG_293:g.87688T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*177T>G	ENSP00000434898.2:n.*177T>G
ENST00000528762.2:c.*1021T>G	ENSP00000433168.2:n.*1021T>G
ENST00000530893.7:c.9285T>G	ENSP00000499438.2:p.Ser3095=
ENST00000665585.2:c.*1216T>G	ENSP00000499570.2:n.*1216T>G
ENST00000700202.2:c.9603T>G	ENSP00000514856.2:p.Ser3201=
ENST00000700202.1:c.2070T>G	ENSP00000514856.1:p.Ser690=
ENST00000700203.1:n.1781T>G
ENST00000380152.8:c.9654T>G MANE Select	ENSP00000369497.3:p.Ser3218=
ENST00000544455.6:c.9654T>G	ENSP00000439902.1:p.Ser3218=
ENST00000614259.2:c.9662T>G	ENSP00000506251.1:n.9662T>G
ENST00000665585.1:c.2532T>G
ENST00000680887.1:c.9654T>G	ENSP00000505508.1:p.Ser3218=
ENST00000380152.7:c.9654T>G	ENSP00000369497.3:p.Ser3218=
ENST00000470094.1:c.737T>G
ENST00000533776.1:n.242T>G
ENST00000544455.5:c.9654T>G	ENSP00000439902.1:p.Ser3218=
NM_000059.3:c.9654T>G , LRG_293t1:c.9654T>G	NP_000050.2:p.Ser3218=
XM_011535203.1:c.9654T>G	XP_011533505.1:p.Ser3218=
XM_011535204.1:c.9558T>G	XP_011533506.1:p.Ser3186=
NM_000059.4:c.9654T>G MANE Select	NP_000050.3:p.Ser3218=