Canonical Allele Identifier: CA1139770834

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362618_32362619del , CM000675.2:g.32362618_32362619del	GRCh38
NC_000013.10:g.32936755_32936756del , CM000675.1:g.32936755_32936756del	GRCh37
NC_000013.9:g.31834755_31834756del	NCBI36
NG_012772.3:g.52139_52140del , LRG_293:g.52139_52140del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7901_7902del	ENSP00000434898.2:p.Met2634ArgfsTer6
ENST00000528762.2:c.7901_7902del	ENSP00000433168.2:p.Met2634ArgfsTer6
ENST00000530893.7:c.7532_7533del	ENSP00000499438.2:p.Met2511ArgfsTer6
ENST00000665585.2:c.7901_7902del	ENSP00000499570.2:p.Met2634ArgfsTer6
ENST00000666593.2:c.7901_7902del	ENSP00000499256.2:p.Met2634ArgfsTer6
ENST00000700202.2:c.7901_7902del	ENSP00000514856.2:p.Met2634ArgfsTer6
ENST00000700202.1:c.368_369del	ENSP00000514856.1:p.Met123ArgfsTer6
ENST00000380152.8:c.7901_7902del MANE Select	ENSP00000369497.3:p.Met2634ArgfsTer6
ENST00000544455.6:c.7901_7902del	ENSP00000439902.1:p.Met2634ArgfsTer6
ENST00000614259.2:c.7909_7910del	ENSP00000506251.1:p.Trp2637GlufsTer?
ENST00000665585.1:c.466_467del
ENST00000680887.1:c.7901_7902del	ENSP00000505508.1:p.Met2634ArgfsTer6
ENST00000380152.7:c.7901_7902del	ENSP00000369497.3:p.Met2634ArgfsTer6
ENST00000544455.5:c.7901_7902del	ENSP00000439902.1:p.Met2634ArgfsTer6
ENST00000614259.1:n.7909_7910del
NM_000059.3:c.7901_7902del , LRG_293t1:c.7901_7902del	NP_000050.2:p.Met2634ArgfsTer6
XM_011535203.1:c.7901_7902del	XP_011533505.1:p.Met2634ArgfsTer6
XM_011535204.1:c.7805_7806del	XP_011533506.1:p.Met2602ArgfsTer6
XM_011535205.1:c.7901_7902del	XP_011533507.1:p.Met2634ArgfsTer6
NM_000059.4:c.7901_7902del MANE Select	NP_000050.3:p.Met2634ArgfsTer6