Canonical Allele Identifier: CA10589546

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379901T>G , CM000675.2:g.32379901T>G	GRCh38
NC_000013.10:g.32954038T>G , CM000675.1:g.32954038T>G	GRCh37
NC_000013.9:g.31852038T>G	NCBI36
NG_012772.3:g.69422T>G , LRG_293:g.69422T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9105T>G MANE Select	NP_000050.3:p.Tyr3035Ter
ENST00000380152.8:c.9105T>G MANE Select	ENSP00000369497.3:p.Tyr3035Ter
NM_000059.3:c.9105T>G , LRG_293t1:c.9105T>G	NP_000050.2:p.Tyr3035Ter
ENST00000380152.7:c.9105T>G	ENSP00000369497.3:p.Tyr3035Ter
ENST00000470094.1:c.62T>G
ENST00000470094.2:c.9105T>G	ENSP00000434898.2:p.Tyr3035Ter
ENST00000528762.2:c.*472T>G	ENSP00000433168.2:n.*472T>G
ENST00000530893.7:c.8736T>G	ENSP00000499438.2:p.Tyr2912Ter
ENST00000544455.5:c.9105T>G	ENSP00000439902.1:p.Tyr3035Ter
ENST00000544455.6:c.9105T>G	ENSP00000439902.1:p.Tyr3035Ter
ENST00000614259.2:c.9113T>G	ENSP00000506251.1:n.9113T>G
ENST00000665585.1:c.1983T>G
ENST00000665585.2:c.*667T>G	ENSP00000499570.2:n.*667T>G
ENST00000666593.2:c.9105T>G	ENSP00000499256.2:p.Tyr3035Ter
ENST00000680887.1:c.9105T>G	ENSP00000505508.1:p.Tyr3035Ter
ENST00000700202.1:c.1521T>G	ENSP00000514856.1:p.Tyr507Ter
ENST00000700202.2:c.9054T>G	ENSP00000514856.2:p.Tyr3018Ter
ENST00000700203.1:n.1232T>G
XM_011535203.1:c.9105T>G	XP_011533505.1:p.Tyr3035Ter
XM_011535204.1:c.9009T>G	XP_011533506.1:p.Tyr3003Ter