Canonical Allele Identifier: CA387760791

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394710T>A , CM000675.2:g.32394710T>A	GRCh38
NC_000013.10:g.32968847T>A , CM000675.1:g.32968847T>A	GRCh37
NC_000013.9:g.31866847T>A	NCBI36
NG_012772.3:g.84231T>A , LRG_293:g.84231T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9278T>A MANE Select	NP_000050.3:p.Leu3093Ter
ENST00000380152.8:c.9278T>A MANE Select	ENSP00000369497.3:p.Leu3093Ter
NM_000059.3:c.9278T>A , LRG_293t1:c.9278T>A	NP_000050.2:p.Leu3093Ter
ENST00000380152.7:c.9278T>A	ENSP00000369497.3:p.Leu3093Ter
ENST00000470094.1:c.235T>A
ENST00000470094.2:c.9278T>A	ENSP00000434898.2:p.Leu3093Ter
ENST00000528762.2:c.*645T>A	ENSP00000433168.2:n.*645T>A
ENST00000530893.7:c.8909T>A	ENSP00000499438.2:p.Leu2970Ter
ENST00000544455.5:c.9278T>A	ENSP00000439902.1:p.Leu3093Ter
ENST00000544455.6:c.9278T>A	ENSP00000439902.1:p.Leu3093Ter
ENST00000614259.2:c.9286T>A	ENSP00000506251.1:n.9286T>A
ENST00000665585.1:c.2156T>A
ENST00000665585.2:c.*840T>A	ENSP00000499570.2:n.*840T>A
ENST00000666593.1:c.300T>A	ENSP00000499256.1:n.300T>A
ENST00000666593.2:c.*123T>A	ENSP00000499256.2:n.*123T>A
ENST00000680887.1:c.9278T>A	ENSP00000505508.1:p.Leu3093Ter
ENST00000700202.1:c.1694T>A	ENSP00000514856.1:p.Leu565Ter
ENST00000700202.2:c.9227T>A	ENSP00000514856.2:p.Leu3076Ter
ENST00000700203.1:n.1405T>A
XM_011535203.1:c.9278T>A	XP_011533505.1:p.Leu3093Ter
XM_011535204.1:c.9182T>A	XP_011533506.1:p.Leu3061Ter