Canonical Allele Identifier: CA2573053824

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1339716
• ClinVar RCV Id: RCV001825104 ; RCV003475103
• dbSNP Id: rs2137577594

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362650_32362660delinsCTATTAGCA , CM000675.2:g.32362650_32362660delinsCTATTAGCA	GRCh38
NC_000013.10:g.32936787_32936797delinsCTATTAGCA , CM000675.1:g.32936787_32936797delinsCTATTAGCA	GRCh37
NC_000013.9:g.31834787_31834797delinsCTATTAGCA	NCBI36
NG_012772.3:g.52171_52181delinsCTATTAGCA , LRG_293:g.52171_52181delinsCTATTAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7933_7943delinsCTATTAGCA	ENSP00000434898.2:p.Arg2645LeufsTer16
ENST00000528762.2:c.7933_7943delinsCTATTAGCA	ENSP00000433168.2:p.Arg2645LeufsTer16
ENST00000530893.7:c.7564_7574delinsCTATTAGCA	ENSP00000499438.2:p.Arg2522LeufsTer16
ENST00000665585.2:c.7933_7943delinsCTATTAGCA	ENSP00000499570.2:p.Arg2645LeufsTer16
ENST00000666593.2:c.7933_7943delinsCTATTAGCA	ENSP00000499256.2:p.Arg2645LeufsTer16
ENST00000700202.2:c.7933_7943delinsCTATTAGCA	ENSP00000514856.2:p.Arg2645LeufsTer16
ENST00000700202.1:c.400_410delinsCTATTAGCA	ENSP00000514856.1:p.Arg134LeufsTer16
ENST00000380152.8:c.7933_7943delinsCTATTAGCA MANE Select	ENSP00000369497.3:p.Arg2645LeufsTer16
ENST00000544455.6:c.7933_7943delinsCTATTAGCA	ENSP00000439902.1:p.Arg2645LeufsTer16
ENST00000614259.2:c.7941_7951delinsCTATTAGCA	ENSP00000506251.1:n.[c.7941_7951delinsCTATTAGCA;Asp2648TyrfsT...
ENST00000665585.1:c.498_508delinsCTATTAGCA
ENST00000680887.1:c.7933_7943delinsCTATTAGCA	ENSP00000505508.1:p.Arg2645LeufsTer16
ENST00000380152.7:c.7933_7943delinsCTATTAGCA	ENSP00000369497.3:p.Arg2645LeufsTer16
ENST00000544455.5:c.7933_7943delinsCTATTAGCA	ENSP00000439902.1:p.Arg2645LeufsTer16
NM_000059.3:c.7933_7943delinsCTATTAGCA , LRG_293t1:c.7933_7943delinsCTATTAGCA	NP_000050.2:p.Arg2645LeufsTer16
XM_011535203.1:c.7933_7943delinsCTATTAGCA	XP_011533505.1:p.Arg2645LeufsTer16
XM_011535204.1:c.7837_7847delinsCTATTAGCA	XP_011533506.1:p.Arg2613LeufsTer16
XM_011535205.1:c.7933_7943delinsCTATTAGCA	XP_011533507.1:p.Arg2645LeufsTer16
NM_000059.4:c.7933_7943delinsCTATTAGCA MANE Select	NP_000050.3:p.Arg2645LeufsTer16