Canonical Allele Identifier: CA483440386

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137666084
• MyVariant Identifiers: chr13:g.32972697C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398560C>G , CM000675.2:g.32398560C>G	GRCh38
NC_000013.10:g.32972697C>G , CM000675.1:g.32972697C>G	GRCh37
NC_000013.9:g.31870697C>G	NCBI36
NG_012772.3:g.88081C>G , LRG_293:g.88081C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*570C>G	ENSP00000434898.2:n.*570C>G
ENST00000528762.2:c.*1414C>G	ENSP00000433168.2:n.*1414C>G
ENST00000530893.7:c.9678C>G	ENSP00000499438.2:p.Thr3226=
ENST00000665585.2:c.*1609C>G	ENSP00000499570.2:n.*1609C>G
ENST00000700202.2:c.9996C>G	ENSP00000514856.2:p.Thr3332=
ENST00000700202.1:c.2463C>G	ENSP00000514856.1:p.Thr821=
ENST00000700203.1:n.2174C>G
ENST00000380152.8:c.10047C>G MANE Select	ENSP00000369497.3:p.Thr3349=
ENST00000544455.6:c.10047C>G	ENSP00000439902.1:p.Thr3349=
ENST00000614259.2:c.10055C>G	ENSP00000506251.1:n.10055C>G
ENST00000680887.1:c.10047C>G	ENSP00000505508.1:p.Thr3349=
ENST00000380152.7:c.10047C>G	ENSP00000369497.3:p.Thr3349=
ENST00000544455.5:c.10047C>G	ENSP00000439902.1:p.Thr3349=
NM_000059.3:c.10047C>G , LRG_293t1:c.10047C>G	NP_000050.2:p.Thr3349=
XM_011535203.1:c.10047C>G	XP_011533505.1:p.Thr3349=
XM_011535204.1:c.9951C>G	XP_011533506.1:p.Thr3317=
NM_000059.4:c.10047C>G MANE Select	NP_000050.3:p.Thr3349=