Canonical Allele Identifier: CA10579833

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394922A>G , CM000675.2:g.32394922A>G	GRCh38
NC_000013.10:g.32969059A>G , CM000675.1:g.32969059A>G	GRCh37
NC_000013.9:g.31867059A>G	NCBI36
NG_012772.3:g.84443A>G , LRG_293:g.84443A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9490A>G MANE Select	NP_000050.3:p.Asn3164Asp
ENST00000380152.8:c.9490A>G MANE Select	ENSP00000369497.3:p.Asn3164Asp
NM_000059.3:c.9490A>G , LRG_293t1:c.9490A>G	NP_000050.2:p.Asn3164Asp
ENST00000380152.7:c.9490A>G	ENSP00000369497.3:p.Asn3164Asp
ENST00000470094.1:c.447A>G
ENST00000470094.2:c.9490A>G	ENSP00000434898.2:p.Asn3164Asp
ENST00000528762.2:c.*857A>G	ENSP00000433168.2:n.*857A>G
ENST00000530893.7:c.9121A>G	ENSP00000499438.2:p.Asn3041Asp
ENST00000544455.5:c.9490A>G	ENSP00000439902.1:p.Asn3164Asp
ENST00000544455.6:c.9490A>G	ENSP00000439902.1:p.Asn3164Asp
ENST00000614259.2:c.9498A>G	ENSP00000506251.1:n.9498A>G
ENST00000665585.1:c.2368A>G
ENST00000665585.2:c.*1052A>G	ENSP00000499570.2:n.*1052A>G
ENST00000666593.1:c.512A>G	ENSP00000499256.1:n.512A>G
ENST00000666593.2:c.*335A>G	ENSP00000499256.2:n.*335A>G
ENST00000680887.1:c.9490A>G	ENSP00000505508.1:p.Asn3164Asp
ENST00000700202.1:c.1906A>G	ENSP00000514856.1:p.Asn636Asp
ENST00000700202.2:c.9439A>G	ENSP00000514856.2:p.Asn3147Asp
ENST00000700203.1:n.1617A>G
XM_011535203.1:c.9490A>G	XP_011533505.1:p.Asn3164Asp
XM_011535204.1:c.9394A>G	XP_011533506.1:p.Asn3132Asp