Canonical Allele Identifier: CA2499222351

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137619797

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379409_32379410insC , CM000675.2:g.32379409_32379410insC	GRCh38
NC_000013.10:g.32953546_32953547insC , CM000675.1:g.32953546_32953547insC	GRCh37
NC_000013.9:g.31851546_31851547insC	NCBI36
NG_012772.3:g.68930_68931insC , LRG_293:g.68930_68931insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8847_8848insC	ENSP00000434898.2:p.Lys2950GlnfsTer7
ENST00000528762.2:c.*214_*215insC	ENSP00000433168.2:n.*214_*215insC
ENST00000530893.7:c.8478_8479insC	ENSP00000499438.2:p.Lys2827GlnfsTer7
ENST00000665585.2:c.*409_*410insC	ENSP00000499570.2:n.*409_*410insC
ENST00000666593.2:c.8847_8848insC	ENSP00000499256.2:p.Lys2950GlnfsTer7
ENST00000700202.2:c.8847_8848insC	ENSP00000514856.2:p.Lys2950GlnfsTer7
ENST00000700202.1:c.1314_1315insC	ENSP00000514856.1:p.Lys439GlnfsTer7
ENST00000700203.1:n.974_975insC
ENST00000380152.8:c.8847_8848insC MANE Select	ENSP00000369497.3:p.Lys2950GlnfsTer7
ENST00000544455.6:c.8847_8848insC	ENSP00000439902.1:p.Lys2950GlnfsTer7
ENST00000614259.2:c.8855_8856insC	ENSP00000506251.1:n.8855_8856insC
ENST00000665585.1:c.1725_1726insC
ENST00000680887.1:c.8847_8848insC	ENSP00000505508.1:p.Lys2950GlnfsTer7
ENST00000380152.7:c.8847_8848insC	ENSP00000369497.3:p.Lys2950GlnfsTer7
ENST00000528762.1:c.409_410insC	ENSP00000433168.1:n.409_410insC
ENST00000544455.5:c.8847_8848insC	ENSP00000439902.1:p.Lys2950GlnfsTer7
NM_000059.3:c.8847_8848insC , LRG_293t1:c.8847_8848insC	NP_000050.2:p.Lys2950GlnfsTer7
XM_011535203.1:c.8847_8848insC	XP_011533505.1:p.Lys2950GlnfsTer7
XM_011535204.1:c.8751_8752insC	XP_011533506.1:p.Lys2918GlnfsTer7
XM_011535205.1:c.8755-341_8755-340insC	XP_011533507.1:n.8755-341_8755-340insC
NM_000059.4:c.8847_8848insC MANE Select	NP_000050.3:p.Lys2950GlnfsTer7