Canonical Allele Identifier: CA387761663

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 491375
• ClinVar RCV Id: RCV000582913 ; RCV002530790
• dbSNP Id: rs80359218
• MyVariant Identifiers: chr13:g.32969023G>T (hg19) ; chr13:g.32394886G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394886G>T , CM000675.2:g.32394886G>T	GRCh38
NC_000013.10:g.32969023G>T , CM000675.1:g.32969023G>T	GRCh37
NC_000013.9:g.31867023G>T	NCBI36
NG_012772.3:g.84407G>T , LRG_293:g.84407G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9454G>T	ENSP00000434898.2:p.Glu3152Ter
ENST00000528762.2:c.*821G>T	ENSP00000433168.2:n.*821G>T
ENST00000530893.7:c.9085G>T	ENSP00000499438.2:p.Glu3029Ter
ENST00000665585.2:c.*1016G>T	ENSP00000499570.2:n.*1016G>T
ENST00000666593.2:c.*299G>T	ENSP00000499256.2:n.*299G>T
ENST00000700202.2:c.9403G>T	ENSP00000514856.2:p.Glu3135Ter
ENST00000700202.1:c.1870G>T	ENSP00000514856.1:p.Glu624Ter
ENST00000700203.1:n.1581G>T
ENST00000380152.8:c.9454G>T MANE Select	ENSP00000369497.3:p.Glu3152Ter
ENST00000544455.6:c.9454G>T	ENSP00000439902.1:p.Glu3152Ter
ENST00000614259.2:c.9462G>T	ENSP00000506251.1:n.9462G>T
ENST00000665585.1:c.2332G>T
ENST00000666593.1:c.476G>T	ENSP00000499256.1:n.476G>T
ENST00000680887.1:c.9454G>T	ENSP00000505508.1:p.Glu3152Ter
ENST00000380152.7:c.9454G>T	ENSP00000369497.3:p.Glu3152Ter
ENST00000470094.1:c.411G>T
ENST00000544455.5:c.9454G>T	ENSP00000439902.1:p.Glu3152Ter
NM_000059.3:c.9454G>T , LRG_293t1:c.9454G>T	NP_000050.2:p.Glu3152Ter
XM_011535203.1:c.9454G>T	XP_011533505.1:p.Glu3152Ter
XM_011535204.1:c.9358G>T	XP_011533506.1:p.Glu3120Ter
NM_000059.4:c.9454G>T MANE Select	NP_000050.3:p.Glu3152Ter