Canonical Allele Identifier: CA387761009

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32968899T>G (hg19) ; chr13:g.32394762T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394762T>G , CM000675.2:g.32394762T>G	GRCh38
NC_000013.10:g.32968899T>G , CM000675.1:g.32968899T>G	GRCh37
NC_000013.9:g.31866899T>G	NCBI36
NG_012772.3:g.84283T>G , LRG_293:g.84283T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9330T>G	ENSP00000434898.2:p.Asn3110Lys
ENST00000528762.2:c.*697T>G	ENSP00000433168.2:n.*697T>G
ENST00000530893.7:c.8961T>G	ENSP00000499438.2:p.Asn2987Lys
ENST00000665585.2:c.*892T>G	ENSP00000499570.2:n.*892T>G
ENST00000666593.2:c.*175T>G	ENSP00000499256.2:n.*175T>G
ENST00000700202.2:c.9279T>G	ENSP00000514856.2:p.Asn3093Lys
ENST00000700202.1:c.1746T>G	ENSP00000514856.1:p.Asn582Lys
ENST00000700203.1:n.1457T>G
ENST00000380152.8:c.9330T>G MANE Select	ENSP00000369497.3:p.Asn3110Lys
ENST00000544455.6:c.9330T>G	ENSP00000439902.1:p.Asn3110Lys
ENST00000614259.2:c.9338T>G	ENSP00000506251.1:n.9338T>G
ENST00000665585.1:c.2208T>G
ENST00000666593.1:c.352T>G	ENSP00000499256.1:n.352T>G
ENST00000680887.1:c.9330T>G	ENSP00000505508.1:p.Asn3110Lys
ENST00000380152.7:c.9330T>G	ENSP00000369497.3:p.Asn3110Lys
ENST00000470094.1:c.287T>G
ENST00000544455.5:c.9330T>G	ENSP00000439902.1:p.Asn3110Lys
NM_000059.3:c.9330T>G , LRG_293t1:c.9330T>G	NP_000050.2:p.Asn3110Lys
XM_011535203.1:c.9330T>G	XP_011533505.1:p.Asn3110Lys
XM_011535204.1:c.9234T>G	XP_011533506.1:p.Asn3078Lys
NM_000059.4:c.9330T>G MANE Select	NP_000050.3:p.Asn3110Lys