Canonical Allele Identifier: CA1139768290

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379469_32379476del , CM000675.2:g.32379469_32379476del	GRCh38
NC_000013.10:g.32953606_32953613del , CM000675.1:g.32953606_32953613del	GRCh37
NC_000013.9:g.31851606_31851613del	NCBI36
NG_012772.3:g.68990_68997del , LRG_293:g.68990_68997del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8907_8914del	ENSP00000434898.2:p.Trp2970AlafsTer?
ENST00000528762.2:c.*274_*281del	ENSP00000433168.2:n.*274_*281del
ENST00000530893.7:c.8538_8545del	ENSP00000499438.2:p.Trp2847AlafsTer?
ENST00000665585.2:c.*469_*476del	ENSP00000499570.2:n.*469_*476del
ENST00000666593.2:c.8907_8914del	ENSP00000499256.2:p.Trp2970AlafsTer?
ENST00000700202.2:c.8907_8914del	ENSP00000514856.2:p.Trp2970AlafsTer28
ENST00000700202.1:c.1374_1381del	ENSP00000514856.1:p.Trp459AlafsTer28
ENST00000700203.1:n.1034_1041del
ENST00000380152.8:c.8907_8914del MANE Select	ENSP00000369497.3:p.Trp2970AlafsTer?
ENST00000544455.6:c.8907_8914del	ENSP00000439902.1:p.Trp2970AlafsTer?
ENST00000614259.2:c.8915_8922del	ENSP00000506251.1:n.8915_8922del
ENST00000665585.1:c.1785_1792del
ENST00000680887.1:c.8907_8914del	ENSP00000505508.1:p.Trp2970AlafsTer?
ENST00000380152.7:c.8907_8914del	ENSP00000369497.3:p.Trp2970AlafsTer?
ENST00000528762.1:c.469_476del	ENSP00000433168.1:n.469_476del
ENST00000544455.5:c.8907_8914del	ENSP00000439902.1:p.Trp2970AlafsTer?
NM_000059.3:c.8907_8914del , LRG_293t1:c.8907_8914del	NP_000050.2:p.Trp2970AlafsTer?
XM_011535203.1:c.8907_8914del	XP_011533505.1:p.Trp2970AlafsTer?
XM_011535204.1:c.8811_8818del	XP_011533506.1:p.Trp2938AlafsTer?
XM_011535205.1:c.8755-281_8755-274del	XP_011533507.1:n.8755-281_8755-274del
NM_000059.4:c.8907_8914del MANE Select	NP_000050.3:p.Trp2970AlafsTer?