Canonical Allele Identifier: CA387766092

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972454A>T (hg19) ; chr13:g.32398317A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398317A>T , CM000675.2:g.32398317A>T	GRCh38
NC_000013.10:g.32972454A>T , CM000675.1:g.32972454A>T	GRCh37
NC_000013.9:g.31870454A>T	NCBI36
NG_012772.3:g.87838A>T , LRG_293:g.87838A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*327A>T	ENSP00000434898.2:n.*327A>T
ENST00000528762.2:c.*1171A>T	ENSP00000433168.2:n.*1171A>T
ENST00000530893.7:c.9435A>T	ENSP00000499438.2:p.Arg3145Ser
ENST00000665585.2:c.*1366A>T	ENSP00000499570.2:n.*1366A>T
ENST00000700202.2:c.9753A>T	ENSP00000514856.2:p.Arg3251Ser
ENST00000700202.1:c.2220A>T	ENSP00000514856.1:p.Arg740Ser
ENST00000700203.1:n.1931A>T
ENST00000380152.8:c.9804A>T MANE Select	ENSP00000369497.3:p.Arg3268Ser
ENST00000544455.6:c.9804A>T	ENSP00000439902.1:p.Arg3268Ser
ENST00000614259.2:c.9812A>T	ENSP00000506251.1:n.9812A>T
ENST00000680887.1:c.9804A>T	ENSP00000505508.1:p.Arg3268Ser
ENST00000380152.7:c.9804A>T	ENSP00000369497.3:p.Arg3268Ser
ENST00000533776.1:n.392A>T
ENST00000544455.5:c.9804A>T	ENSP00000439902.1:p.Arg3268Ser
NM_000059.3:c.9804A>T , LRG_293t1:c.9804A>T	NP_000050.2:p.Arg3268Ser
XM_011535203.1:c.9804A>T	XP_011533505.1:p.Arg3268Ser
XM_011535204.1:c.9708A>T	XP_011533506.1:p.Arg3236Ser
NM_000059.4:c.9804A>T MANE Select	NP_000050.3:p.Arg3268Ser