Canonical Allele Identifier: CA387757211

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137620277
• MyVariant Identifiers: chr13:g.32953599C>G (hg19) ; chr13:g.32379462C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379462C>G , CM000675.2:g.32379462C>G	GRCh38
NC_000013.10:g.32953599C>G , CM000675.1:g.32953599C>G	GRCh37
NC_000013.9:g.31851599C>G	NCBI36
NG_012772.3:g.68983C>G , LRG_293:g.68983C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8900C>G	ENSP00000434898.2:p.Thr2967Arg
ENST00000528762.2:c.*267C>G	ENSP00000433168.2:n.*267C>G
ENST00000530893.7:c.8531C>G	ENSP00000499438.2:p.Thr2844Arg
ENST00000665585.2:c.*462C>G	ENSP00000499570.2:n.*462C>G
ENST00000666593.2:c.8900C>G	ENSP00000499256.2:p.Thr2967Arg
ENST00000700202.2:c.8900C>G	ENSP00000514856.2:p.Thr2967Arg
ENST00000700202.1:c.1367C>G	ENSP00000514856.1:p.Thr456Arg
ENST00000700203.1:n.1027C>G
ENST00000380152.8:c.8900C>G MANE Select	ENSP00000369497.3:p.Thr2967Arg
ENST00000544455.6:c.8900C>G	ENSP00000439902.1:p.Thr2967Arg
ENST00000614259.2:c.8908C>G	ENSP00000506251.1:n.8908C>G
ENST00000665585.1:c.1778C>G
ENST00000680887.1:c.8900C>G	ENSP00000505508.1:p.Thr2967Arg
ENST00000380152.7:c.8900C>G	ENSP00000369497.3:p.Thr2967Arg
ENST00000528762.1:c.462C>G	ENSP00000433168.1:n.462C>G
ENST00000544455.5:c.8900C>G	ENSP00000439902.1:p.Thr2967Arg
NM_000059.3:c.8900C>G , LRG_293t1:c.8900C>G	NP_000050.2:p.Thr2967Arg
XM_011535203.1:c.8900C>G	XP_011533505.1:p.Thr2967Arg
XM_011535204.1:c.8804C>G	XP_011533506.1:p.Thr2935Arg
XM_011535205.1:c.8755-288C>G	XP_011533507.1:n.8755-288C>G
NM_000059.4:c.8900C>G MANE Select	NP_000050.3:p.Thr2967Arg