Canonical Allele Identifier: CA483261764

Gene: BRCA2

Linked Data

• dbSNP Id: rs1593934819
• MyVariant Identifiers: chr13:g.32950838T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376701T>G , CM000675.2:g.32376701T>G	GRCh38
NC_000013.10:g.32950838T>G , CM000675.1:g.32950838T>G	GRCh37
NC_000013.9:g.31848838T>G	NCBI36
NG_012772.3:g.66222T>G , LRG_293:g.66222T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8664T>G	ENSP00000434898.2:p.Arg2888=
ENST00000528762.2:c.*31T>G	ENSP00000433168.2:n.*31T>G
ENST00000530893.7:c.8295T>G	ENSP00000499438.2:p.Arg2765=
ENST00000665585.2:c.*226T>G	ENSP00000499570.2:n.*226T>G
ENST00000666593.2:c.8664T>G	ENSP00000499256.2:p.Arg2888=
ENST00000700202.2:c.8664T>G	ENSP00000514856.2:p.Arg2888=
ENST00000700202.1:c.1131T>G	ENSP00000514856.1:p.Arg377=
ENST00000700203.1:n.791T>G
ENST00000380152.8:c.8664T>G MANE Select	ENSP00000369497.3:p.Arg2888=
ENST00000544455.6:c.8664T>G	ENSP00000439902.1:p.Arg2888=
ENST00000614259.2:c.8672T>G	ENSP00000506251.1:n.8672T>G
ENST00000665585.1:c.1542T>G
ENST00000680887.1:c.8664T>G	ENSP00000505508.1:p.Arg2888=
ENST00000380152.7:c.8664T>G	ENSP00000369497.3:p.Arg2888=
ENST00000528762.1:c.226T>G	ENSP00000433168.1:n.226T>G
ENST00000544455.5:c.8664T>G	ENSP00000439902.1:p.Arg2888=
NM_000059.3:c.8664T>G , LRG_293t1:c.8664T>G	NP_000050.2:p.Arg2888=
XM_011535203.1:c.8664T>G	XP_011533505.1:p.Arg2888=
XM_011535204.1:c.8568T>G	XP_011533506.1:p.Arg2856=
XM_011535205.1:c.8664T>G	XP_011533507.1:p.Arg2888=
NM_000059.4:c.8664T>G MANE Select	NP_000050.3:p.Arg2888=