Canonical Allele Identifier: CA919243085

Gene: BRCA2

Linked Data

• dbSNP Id: rs1566252769

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379477_32379484del , CM000675.2:g.32379477_32379484del	GRCh38
NC_000013.10:g.32953614_32953621del , CM000675.1:g.32953614_32953621del	GRCh37
NC_000013.9:g.31851614_31851621del	NCBI36
NG_012772.3:g.68998_69005del , LRG_293:g.68998_69005del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8915_8922del	ENSP00000434898.2:p.Leu2972CysfsTer?
ENST00000528762.2:c.*282_*289del	ENSP00000433168.2:n.*282_*289del
ENST00000530893.7:c.8546_8553del	ENSP00000499438.2:p.Leu2849CysfsTer?
ENST00000665585.2:c.*477_*484del	ENSP00000499570.2:n.*477_*484del
ENST00000666593.2:c.8915_8922del	ENSP00000499256.2:p.Leu2972CysfsTer?
ENST00000700202.2:c.8915_8922del	ENSP00000514856.2:p.Leu2972CysfsTer26
ENST00000700202.1:c.1382_1389del	ENSP00000514856.1:p.Leu461CysfsTer26
ENST00000700203.1:n.1042_1049del
ENST00000380152.8:c.8915_8922del MANE Select	ENSP00000369497.3:p.Leu2972CysfsTer?
ENST00000544455.6:c.8915_8922del	ENSP00000439902.1:p.Leu2972CysfsTer?
ENST00000614259.2:c.8923_8930del	ENSP00000506251.1:n.8923_8930del
ENST00000665585.1:c.1793_1800del
ENST00000680887.1:c.8915_8922del	ENSP00000505508.1:p.Leu2972CysfsTer?
ENST00000380152.7:c.8915_8922del	ENSP00000369497.3:p.Leu2972CysfsTer?
ENST00000528762.1:c.477_484del	ENSP00000433168.1:n.477_484del
ENST00000544455.5:c.8915_8922del	ENSP00000439902.1:p.Leu2972CysfsTer?
NM_000059.3:c.8915_8922del , LRG_293t1:c.8915_8922del	NP_000050.2:p.Leu2972CysfsTer?
XM_011535203.1:c.8915_8922del	XP_011533505.1:p.Leu2972CysfsTer?
XM_011535204.1:c.8819_8826del	XP_011533506.1:p.Leu2940CysfsTer?
XM_011535205.1:c.8755-273_8755-266del	XP_011533507.1:n.8755-273_8755-266del
NM_000059.4:c.8915_8922del MANE Select	NP_000050.3:p.Leu2972CysfsTer?