Canonical Allele Identifier: CA387757832

Gene: BRCA2

Linked Data

• dbSNP Id: rs1205776232
• MyVariant Identifiers: chr13:g.32954160T>G (hg19) ; chr13:g.32380023T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380023T>G , CM000675.2:g.32380023T>G	GRCh38
NC_000013.10:g.32954160T>G , CM000675.1:g.32954160T>G	GRCh37
NC_000013.9:g.31852160T>G	NCBI36
NG_012772.3:g.69544T>G , LRG_293:g.69544T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9134T>G	ENSP00000434898.2:p.Leu3045Ter
ENST00000528762.2:c.*501T>G	ENSP00000433168.2:n.*501T>G
ENST00000530893.7:c.8765T>G	ENSP00000499438.2:p.Leu2922Ter
ENST00000665585.2:c.*696T>G	ENSP00000499570.2:n.*696T>G
ENST00000666593.2:c.9134T>G	ENSP00000499256.2:p.Leu3045Ter
ENST00000700202.2:c.9083T>G	ENSP00000514856.2:p.Leu3028Ter
ENST00000700202.1:c.1550T>G	ENSP00000514856.1:p.Leu517Ter
ENST00000700203.1:n.1261T>G
ENST00000380152.8:c.9134T>G MANE Select	ENSP00000369497.3:p.Leu3045Ter
ENST00000544455.6:c.9134T>G	ENSP00000439902.1:p.Leu3045Ter
ENST00000614259.2:c.9142T>G	ENSP00000506251.1:n.9142T>G
ENST00000665585.1:c.2012T>G
ENST00000666593.1:c.17T>G	ENSP00000499256.1:p.Leu6Ter
ENST00000680887.1:c.9134T>G	ENSP00000505508.1:p.Leu3045Ter
ENST00000380152.7:c.9134T>G	ENSP00000369497.3:p.Leu3045Ter
ENST00000470094.1:c.91T>G
ENST00000544455.5:c.9134T>G	ENSP00000439902.1:p.Leu3045Ter
NM_000059.3:c.9134T>G , LRG_293t1:c.9134T>G	NP_000050.2:p.Leu3045Ter
XM_011535203.1:c.9134T>G	XP_011533505.1:p.Leu3045Ter
XM_011535204.1:c.9038T>G	XP_011533506.1:p.Leu3013Ter
NM_000059.4:c.9134T>G MANE Select	NP_000050.3:p.Leu3045Ter