Canonical Allele Identifier: CA025978

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52749
• ClinVar RCV Id: RCV000114047 ; RCV000220911 ; RCV000496303 ; RCV002371870 ; RCV003473428
• dbSNP Id: rs80359163
• MyVariant Identifiers: chr13:g.32954033C>T (hg19) ; chr13:g.32379896C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379896C>T , CM000675.2:g.32379896C>T	GRCh38
NC_000013.10:g.32954033C>T , CM000675.1:g.32954033C>T	GRCh37
NC_000013.9:g.31852033C>T	NCBI36
NG_012772.3:g.69417C>T , LRG_293:g.69417C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9100C>T	ENSP00000434898.2:p.Gln3034Ter
ENST00000528762.2:c.*467C>T	ENSP00000433168.2:n.*467C>T
ENST00000530893.7:c.8731C>T	ENSP00000499438.2:p.Gln2911Ter
ENST00000665585.2:c.*662C>T	ENSP00000499570.2:n.*662C>T
ENST00000666593.2:c.9100C>T	ENSP00000499256.2:p.Gln3034Ter
ENST00000700202.2:c.9049C>T	ENSP00000514856.2:p.Gln3017Ter
ENST00000700202.1:c.1516C>T	ENSP00000514856.1:p.Gln506Ter
ENST00000700203.1:n.1227C>T
ENST00000380152.8:c.9100C>T MANE Select	ENSP00000369497.3:p.Gln3034Ter
ENST00000544455.6:c.9100C>T	ENSP00000439902.1:p.Gln3034Ter
ENST00000614259.2:c.9108C>T	ENSP00000506251.1:n.9108C>T
ENST00000665585.1:c.1978C>T
ENST00000680887.1:c.9100C>T	ENSP00000505508.1:p.Gln3034Ter
ENST00000380152.7:c.9100C>T	ENSP00000369497.3:p.Gln3034Ter
ENST00000470094.1:c.57C>T
ENST00000544455.5:c.9100C>T	ENSP00000439902.1:p.Gln3034Ter
NM_000059.3:c.9100C>T , LRG_293t1:c.9100C>T	NP_000050.2:p.Gln3034Ter
XM_011535203.1:c.9100C>T	XP_011533505.1:p.Gln3034Ter
XM_011535204.1:c.9004C>T	XP_011533506.1:p.Gln3002Ter
NM_000059.4:c.9100C>T MANE Select	NP_000050.3:p.Gln3034Ter