Canonical Allele Identifier: CA483440002

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137664971
• MyVariant Identifiers: chr13:g.32972565C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398428C>T , CM000675.2:g.32398428C>T	GRCh38
NC_000013.10:g.32972565C>T , CM000675.1:g.32972565C>T	GRCh37
NC_000013.9:g.31870565C>T	NCBI36
NG_012772.3:g.87949C>T , LRG_293:g.87949C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*438C>T	ENSP00000434898.2:n.*438C>T
ENST00000528762.2:c.*1282C>T	ENSP00000433168.2:n.*1282C>T
ENST00000530893.7:c.9546C>T	ENSP00000499438.2:p.Gly3182=
ENST00000665585.2:c.*1477C>T	ENSP00000499570.2:n.*1477C>T
ENST00000700202.2:c.9864C>T	ENSP00000514856.2:p.Gly3288=
ENST00000700202.1:c.2331C>T	ENSP00000514856.1:p.Gly777=
ENST00000700203.1:n.2042C>T
ENST00000380152.8:c.9915C>T MANE Select	ENSP00000369497.3:p.Gly3305=
ENST00000544455.6:c.9915C>T	ENSP00000439902.1:p.Gly3305=
ENST00000614259.2:c.9923C>T	ENSP00000506251.1:n.9923C>T
ENST00000680887.1:c.9915C>T	ENSP00000505508.1:p.Gly3305=
ENST00000380152.7:c.9915C>T	ENSP00000369497.3:p.Gly3305=
ENST00000533776.1:n.503C>T
ENST00000544455.5:c.9915C>T	ENSP00000439902.1:p.Gly3305=
NM_000059.3:c.9915C>T , LRG_293t1:c.9915C>T	NP_000050.2:p.Gly3305=
XM_011535203.1:c.9915C>T	XP_011533505.1:p.Gly3305=
XM_011535204.1:c.9819C>T	XP_011533506.1:p.Gly3273=
NM_000059.4:c.9915C>T MANE Select	NP_000050.3:p.Gly3305=