Canonical Allele Identifier: CA387757846

Gene: BRCA2

Linked Data

• dbSNP Id: rs1217969055
• MyVariant Identifiers: chr13:g.32954163T>A (hg19) ; chr13:g.32380026T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380026T>A , CM000675.2:g.32380026T>A	GRCh38
NC_000013.10:g.32954163T>A , CM000675.1:g.32954163T>A	GRCh37
NC_000013.9:g.31852163T>A	NCBI36
NG_012772.3:g.69547T>A , LRG_293:g.69547T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9137T>A	ENSP00000434898.2:p.Phe3046Tyr
ENST00000528762.2:c.*504T>A	ENSP00000433168.2:n.*504T>A
ENST00000530893.7:c.8768T>A	ENSP00000499438.2:p.Phe2923Tyr
ENST00000665585.2:c.*699T>A	ENSP00000499570.2:n.*699T>A
ENST00000666593.2:c.9137T>A	ENSP00000499256.2:p.Phe3046Tyr
ENST00000700202.2:c.9086T>A	ENSP00000514856.2:p.Phe3029Tyr
ENST00000700202.1:c.1553T>A	ENSP00000514856.1:p.Phe518Tyr
ENST00000700203.1:n.1264T>A
ENST00000380152.8:c.9137T>A MANE Select	ENSP00000369497.3:p.Phe3046Tyr
ENST00000544455.6:c.9137T>A	ENSP00000439902.1:p.Phe3046Tyr
ENST00000614259.2:c.9145T>A	ENSP00000506251.1:n.9145T>A
ENST00000665585.1:c.2015T>A
ENST00000666593.1:c.20T>A	ENSP00000499256.1:p.Phe7Tyr
ENST00000680887.1:c.9137T>A	ENSP00000505508.1:p.Phe3046Tyr
ENST00000380152.7:c.9137T>A	ENSP00000369497.3:p.Phe3046Tyr
ENST00000470094.1:c.94T>A
ENST00000544455.5:c.9137T>A	ENSP00000439902.1:p.Phe3046Tyr
NM_000059.3:c.9137T>A , LRG_293t1:c.9137T>A	NP_000050.2:p.Phe3046Tyr
XM_011535203.1:c.9137T>A	XP_011533505.1:p.Phe3046Tyr
XM_011535204.1:c.9041T>A	XP_011533506.1:p.Phe3014Tyr
NM_000059.4:c.9137T>A MANE Select	NP_000050.3:p.Phe3046Tyr