Canonical Allele Identifier: CA387768204

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398676C>A , CM000675.2:g.32398676C>A	GRCh38
NC_000013.10:g.32972813C>A , CM000675.1:g.32972813C>A	GRCh37
NC_000013.9:g.31870813C>A	NCBI36
NG_012772.3:g.88197C>A , LRG_293:g.88197C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.10163C>A MANE Select	NP_000050.3:p.Thr3388Lys
ENST00000380152.8:c.10163C>A MANE Select	ENSP00000369497.3:p.Thr3388Lys
NM_000059.3:c.10163C>A , LRG_293t1:c.10163C>A	NP_000050.2:p.Thr3388Lys
ENST00000380152.7:c.10163C>A	ENSP00000369497.3:p.Thr3388Lys
ENST00000470094.2:c.*686C>A	ENSP00000434898.2:n.*686C>A
ENST00000528762.2:c.*1530C>A	ENSP00000433168.2:n.*1530C>A
ENST00000530893.7:c.9794C>A	ENSP00000499438.2:p.Thr3265Lys
ENST00000544455.5:c.10163C>A	ENSP00000439902.1:p.Thr3388Lys
ENST00000544455.6:c.10163C>A	ENSP00000439902.1:p.Thr3388Lys
ENST00000614259.2:c.10171C>A	ENSP00000506251.1:n.10171C>A
ENST00000665585.2:c.*1725C>A	ENSP00000499570.2:n.*1725C>A
ENST00000680887.1:c.10163C>A	ENSP00000505508.1:p.Thr3388Lys
ENST00000700202.1:c.2579C>A	ENSP00000514856.1:p.Thr860Lys
ENST00000700202.2:c.10112C>A	ENSP00000514856.2:p.Thr3371Lys
ENST00000700203.1:n.2290C>A
XM_011535203.1:c.10163C>A	XP_011533505.1:p.Thr3388Lys
XM_011535204.1:c.10067C>A	XP_011533506.1:p.Thr3356Lys