Canonical Allele Identifier: CA387763176

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32971079T>G (hg19) ; chr13:g.32396942T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396942T>G , CM000675.2:g.32396942T>G	GRCh38
NC_000013.10:g.32971079T>G , CM000675.1:g.32971079T>G	GRCh37
NC_000013.9:g.31869079T>G	NCBI36
NG_012772.3:g.86463T>G , LRG_293:g.86463T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*69T>G	ENSP00000434898.2:n.*69T>G
ENST00000528762.2:c.*913T>G	ENSP00000433168.2:n.*913T>G
ENST00000530893.7:c.9177T>G	ENSP00000499438.2:p.His3059Gln
ENST00000665585.2:c.*1108T>G	ENSP00000499570.2:n.*1108T>G
ENST00000700202.2:c.9495T>G	ENSP00000514856.2:p.His3165Gln
ENST00000700202.1:c.1962T>G	ENSP00000514856.1:p.His654Gln
ENST00000700203.1:n.1673T>G
ENST00000380152.8:c.9546T>G MANE Select	ENSP00000369497.3:p.His3182Gln
ENST00000544455.6:c.9546T>G	ENSP00000439902.1:p.His3182Gln
ENST00000614259.2:c.9554T>G	ENSP00000506251.1:n.9554T>G
ENST00000665585.1:c.2424T>G
ENST00000680887.1:c.9546T>G	ENSP00000505508.1:p.His3182Gln
ENST00000380152.7:c.9546T>G	ENSP00000369497.3:p.His3182Gln
ENST00000470094.1:c.629T>G
ENST00000533776.1:n.134T>G
ENST00000544455.5:c.9546T>G	ENSP00000439902.1:p.His3182Gln
NM_000059.3:c.9546T>G , LRG_293t1:c.9546T>G	NP_000050.2:p.His3182Gln
XM_011535203.1:c.9546T>G	XP_011533505.1:p.His3182Gln
XM_011535204.1:c.9450T>G	XP_011533506.1:p.His3150Gln
NM_000059.4:c.9546T>G MANE Select	NP_000050.3:p.His3182Gln