Canonical Allele Identifier: CA026199

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38246
• ClinVar RCV Id: RCV000031829 ; RCV000496351 ; RCV002371800 ; RCV003483443
• dbSNP Id: rs397507430
• MyVariant Identifiers: chr13:g.32971056G>T (hg19) ; chr13:g.32396919G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396919G>T , CM000675.2:g.32396919G>T	GRCh38
NC_000013.10:g.32971056G>T , CM000675.1:g.32971056G>T	GRCh37
NC_000013.9:g.31869056G>T	NCBI36
NG_012772.3:g.86440G>T , LRG_293:g.86440G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*46G>T	ENSP00000434898.2:n.*46G>T
ENST00000528762.2:c.*890G>T	ENSP00000433168.2:n.*890G>T
ENST00000530893.7:c.9154G>T	ENSP00000499438.2:p.Glu3052Ter
ENST00000665585.2:c.*1085G>T	ENSP00000499570.2:n.*1085G>T
ENST00000700202.2:c.9472G>T	ENSP00000514856.2:p.Glu3158Ter
ENST00000700202.1:c.1939G>T	ENSP00000514856.1:p.Glu647Ter
ENST00000700203.1:n.1650G>T
ENST00000380152.8:c.9523G>T MANE Select	ENSP00000369497.3:p.Glu3175Ter
ENST00000544455.6:c.9523G>T	ENSP00000439902.1:p.Glu3175Ter
ENST00000614259.2:c.9531G>T	ENSP00000506251.1:n.9531G>T
ENST00000665585.1:c.2401G>T
ENST00000680887.1:c.9523G>T	ENSP00000505508.1:p.Glu3175Ter
ENST00000380152.7:c.9523G>T	ENSP00000369497.3:p.Glu3175Ter
ENST00000470094.1:c.606G>T
ENST00000533776.1:n.111G>T
ENST00000544455.5:c.9523G>T	ENSP00000439902.1:p.Glu3175Ter
NM_000059.3:c.9523G>T , LRG_293t1:c.9523G>T	NP_000050.2:p.Glu3175Ter
XM_011535203.1:c.9523G>T	XP_011533505.1:p.Glu3175Ter
XM_011535204.1:c.9427G>T	XP_011533506.1:p.Glu3143Ter
NM_000059.4:c.9523G>T MANE Select	NP_000050.3:p.Glu3175Ter