Canonical Allele Identifier: CA026122

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52825
• ClinVar RCV Id: RCV000045805 ; RCV000114100 ; RCV000576119 ; RCV001267994
• dbSNP Id: rs80359210
• MyVariant Identifiers: chr13:g.32968945C>T (hg19) ; chr13:g.32394808C>T (hg38)
• PubMed: PMID:12402332 ; PMID:26026974

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394808C>T , CM000675.2:g.32394808C>T	GRCh38
NC_000013.10:g.32968945C>T , CM000675.1:g.32968945C>T	GRCh37
NC_000013.9:g.31866945C>T	NCBI36
NG_012772.3:g.84329C>T , LRG_293:g.84329C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9376C>T	ENSP00000434898.2:p.Gln3126Ter
ENST00000528762.2:c.*743C>T	ENSP00000433168.2:n.*743C>T
ENST00000530893.7:c.9007C>T	ENSP00000499438.2:p.Gln3003Ter
ENST00000665585.2:c.*938C>T	ENSP00000499570.2:n.*938C>T
ENST00000666593.2:c.*221C>T	ENSP00000499256.2:n.*221C>T
ENST00000700202.2:c.9325C>T	ENSP00000514856.2:p.Gln3109Ter
ENST00000700202.1:c.1792C>T	ENSP00000514856.1:p.Gln598Ter
ENST00000700203.1:n.1503C>T
ENST00000380152.8:c.9376C>T MANE Select	ENSP00000369497.3:p.Gln3126Ter
ENST00000544455.6:c.9376C>T	ENSP00000439902.1:p.Gln3126Ter
ENST00000614259.2:c.9384C>T	ENSP00000506251.1:n.9384C>T
ENST00000665585.1:c.2254C>T
ENST00000666593.1:c.398C>T	ENSP00000499256.1:n.398C>T
ENST00000680887.1:c.9376C>T	ENSP00000505508.1:p.Gln3126Ter
ENST00000380152.7:c.9376C>T	ENSP00000369497.3:p.Gln3126Ter
ENST00000470094.1:c.333C>T
ENST00000544455.5:c.9376C>T	ENSP00000439902.1:p.Gln3126Ter
NM_000059.3:c.9376C>T , LRG_293t1:c.9376C>T	NP_000050.2:p.Gln3126Ter
XM_011535203.1:c.9376C>T	XP_011533505.1:p.Gln3126Ter
XM_011535204.1:c.9280C>T	XP_011533506.1:p.Gln3094Ter
NM_000059.4:c.9376C>T MANE Select	NP_000050.3:p.Gln3126Ter