Canonical Allele Identifier: CA387763634

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32397006A>T , CM000675.2:g.32397006A>T	GRCh38
NC_000013.10:g.32971143A>T , CM000675.1:g.32971143A>T	GRCh37
NC_000013.9:g.31869143A>T	NCBI36
NG_012772.3:g.86527A>T , LRG_293:g.86527A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9610A>T MANE Select	NP_000050.3:p.Thr3204Ser
ENST00000380152.8:c.9610A>T MANE Select	ENSP00000369497.3:p.Thr3204Ser
NM_000059.3:c.9610A>T , LRG_293t1:c.9610A>T	NP_000050.2:p.Thr3204Ser
ENST00000380152.7:c.9610A>T	ENSP00000369497.3:p.Thr3204Ser
ENST00000470094.1:c.693A>T
ENST00000470094.2:c.*133A>T	ENSP00000434898.2:n.*133A>T
ENST00000528762.2:c.*977A>T	ENSP00000433168.2:n.*977A>T
ENST00000530893.7:c.9241A>T	ENSP00000499438.2:p.Thr3081Ser
ENST00000533776.1:n.198A>T
ENST00000544455.5:c.9610A>T	ENSP00000439902.1:p.Thr3204Ser
ENST00000544455.6:c.9610A>T	ENSP00000439902.1:p.Thr3204Ser
ENST00000614259.2:c.9618A>T	ENSP00000506251.1:n.9618A>T
ENST00000665585.1:c.2488A>T
ENST00000665585.2:c.*1172A>T	ENSP00000499570.2:n.*1172A>T
ENST00000680887.1:c.9610A>T	ENSP00000505508.1:p.Thr3204Ser
ENST00000700202.1:c.2026A>T	ENSP00000514856.1:p.Thr676Ser
ENST00000700202.2:c.9559A>T	ENSP00000514856.2:p.Thr3187Ser
ENST00000700203.1:n.1737A>T
XM_011535203.1:c.9610A>T	XP_011533505.1:p.Thr3204Ser
XM_011535204.1:c.9514A>T	XP_011533506.1:p.Thr3172Ser