Canonical Allele Identifier: CA387754676

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376687T>C , CM000675.2:g.32376687T>C	GRCh38
NC_000013.10:g.32950824T>C , CM000675.1:g.32950824T>C	GRCh37
NC_000013.9:g.31848824T>C	NCBI36
NG_012772.3:g.66208T>C , LRG_293:g.66208T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.8650T>C MANE Select	NP_000050.3:p.Tyr2884His
ENST00000380152.8:c.8650T>C MANE Select	ENSP00000369497.3:p.Tyr2884His
NM_000059.3:c.8650T>C , LRG_293t1:c.8650T>C	NP_000050.2:p.Tyr2884His
ENST00000380152.7:c.8650T>C	ENSP00000369497.3:p.Tyr2884His
ENST00000470094.2:c.8650T>C	ENSP00000434898.2:p.Tyr2884His
ENST00000528762.1:c.212T>C	ENSP00000433168.1:n.212T>C
ENST00000528762.2:c.*17T>C	ENSP00000433168.2:n.*17T>C
ENST00000530893.7:c.8281T>C	ENSP00000499438.2:p.Tyr2761His
ENST00000544455.5:c.8650T>C	ENSP00000439902.1:p.Tyr2884His
ENST00000544455.6:c.8650T>C	ENSP00000439902.1:p.Tyr2884His
ENST00000614259.2:c.8658T>C	ENSP00000506251.1:n.8658T>C
ENST00000665585.1:c.1528T>C
ENST00000665585.2:c.*212T>C	ENSP00000499570.2:n.*212T>C
ENST00000666593.2:c.8650T>C	ENSP00000499256.2:p.Tyr2884His
ENST00000680887.1:c.8650T>C	ENSP00000505508.1:p.Tyr2884His
ENST00000700202.1:c.1117T>C	ENSP00000514856.1:p.Tyr373His
ENST00000700202.2:c.8650T>C	ENSP00000514856.2:p.Tyr2884His
ENST00000700203.1:n.777T>C
XM_011535203.1:c.8650T>C	XP_011533505.1:p.Tyr2884His
XM_011535204.1:c.8554T>C	XP_011533506.1:p.Tyr2852His
XM_011535205.1:c.8650T>C	XP_011533507.1:p.Tyr2884His