Canonical Allele Identifier: CA387757934

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 462517
• ClinVar RCV Id: RCV000533436 ; RCV002377049
• dbSNP Id: rs80359171
• MyVariant Identifiers: chr13:g.32954181G>T (hg19) ; chr13:g.32380044G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380044G>T , CM000675.2:g.32380044G>T	GRCh38
NC_000013.10:g.32954181G>T , CM000675.1:g.32954181G>T	GRCh37
NC_000013.9:g.31852181G>T	NCBI36
NG_012772.3:g.69565G>T , LRG_293:g.69565G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9155G>T	ENSP00000434898.2:p.Arg3052Leu
ENST00000528762.2:c.*522G>T	ENSP00000433168.2:n.*522G>T
ENST00000530893.7:c.8786G>T	ENSP00000499438.2:p.Arg2929Leu
ENST00000665585.2:c.*717G>T	ENSP00000499570.2:n.*717G>T
ENST00000666593.2:c.9155G>T	ENSP00000499256.2:p.Arg3052Leu
ENST00000700202.2:c.9104G>T	ENSP00000514856.2:p.Arg3035Leu
ENST00000700202.1:c.1571G>T	ENSP00000514856.1:p.Arg524Leu
ENST00000700203.1:n.1282G>T
ENST00000380152.8:c.9155G>T MANE Select	ENSP00000369497.3:p.Arg3052Leu
ENST00000544455.6:c.9155G>T	ENSP00000439902.1:p.Arg3052Leu
ENST00000614259.2:c.9163G>T	ENSP00000506251.1:n.9163G>T
ENST00000665585.1:c.2033G>T
ENST00000666593.1:c.38G>T	ENSP00000499256.1:p.Arg13Leu
ENST00000680887.1:c.9155G>T	ENSP00000505508.1:p.Arg3052Leu
ENST00000380152.7:c.9155G>T	ENSP00000369497.3:p.Arg3052Leu
ENST00000470094.1:c.112G>T
ENST00000544455.5:c.9155G>T	ENSP00000439902.1:p.Arg3052Leu
NM_000059.3:c.9155G>T , LRG_293t1:c.9155G>T	NP_000050.2:p.Arg3052Leu
XM_011535203.1:c.9155G>T	XP_011533505.1:p.Arg3052Leu
XM_011535204.1:c.9059G>T	XP_011533506.1:p.Arg3020Leu
NM_000059.4:c.9155G>T MANE Select	NP_000050.3:p.Arg3052Leu