Canonical Allele Identifier: CA919243107

Gene: BRCA2

Linked Data

• dbSNP Id: rs1566253009

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379750_32379751insAA , CM000675.2:g.32379750_32379751insAA	GRCh38
NC_000013.10:g.32953887_32953888insAA , CM000675.1:g.32953887_32953888insAA	GRCh37
NC_000013.9:g.31851887_31851888insAA	NCBI36
NG_012772.3:g.69271_69272insAA , LRG_293:g.69271_69272insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8954_8955insAA	ENSP00000434898.2:p.Leu2987TyrfsTer2
ENST00000528762.2:c.*321_*322insAA	ENSP00000433168.2:n.*321_*322insAA
ENST00000530893.7:c.8585_8586insAA	ENSP00000499438.2:p.Leu2864TyrfsTer2
ENST00000665585.2:c.*516_*517insAA	ENSP00000499570.2:n.*516_*517insAA
ENST00000666593.2:c.8954_8955insAA	ENSP00000499256.2:p.Leu2987TyrfsTer2
ENST00000700202.2:c.8954-51_8954-50insAA	ENSP00000514856.2:n.8954-51_8954-50insAA
ENST00000700202.1:c.1421-51_1421-50insAA	ENSP00000514856.1:n.1421-51_1421-50insAA
ENST00000700203.1:n.1081_1082insAA
ENST00000380152.8:c.8954_8955insAA MANE Select	ENSP00000369497.3:p.Leu2987TyrfsTer2
ENST00000544455.6:c.8954_8955insAA	ENSP00000439902.1:p.Leu2987TyrfsTer2
ENST00000614259.2:c.8962_8963insAA	ENSP00000506251.1:n.8962_8963insAA
ENST00000665585.1:c.1832_1833insAA
ENST00000680887.1:c.8954_8955insAA	ENSP00000505508.1:p.Leu2987TyrfsTer2
ENST00000380152.7:c.8954_8955insAA	ENSP00000369497.3:p.Leu2987TyrfsTer2
ENST00000544455.5:c.8954_8955insAA	ENSP00000439902.1:p.Leu2987TyrfsTer2
NM_000059.3:c.8954_8955insAA , LRG_293t1:c.8954_8955insAA	NP_000050.2:p.Leu2987TyrfsTer2
XM_011535203.1:c.8954_8955insAA	XP_011533505.1:p.Leu2987TyrfsTer2
XM_011535204.1:c.8858_8859insAA	XP_011533506.1:p.Leu2955TyrfsTer2
XM_011535205.1:c.8755_8756insAA	XP_011533507.1:p.Leu2919Ter
NM_000059.4:c.8954_8955insAA MANE Select	NP_000050.3:p.Leu2987TyrfsTer2