Canonical Allele Identifier: CA2082750092

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32336544_32336549delinsAAGAAG , CM000675.2:g.32336544_32336549delinsAAGAAG	GRCh38
NC_000013.10:g.32910681_32910686delinsAAGAAG , CM000675.1:g.32910681_32910686delinsAAGAAG	GRCh37
NC_000013.9:g.31808681_31808686delinsAAGAAG	NCBI36
NG_012772.3:g.26065_26070delinsAAGAAG , LRG_293:g.26065_26070delinsAAGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.2189_2194delinsAAGAAG	ENSP00000434898.2:p.Lys730=
ENST00000528762.2:c.2189_2194delinsAAGAAG	ENSP00000433168.2:p.Lys730=
ENST00000530893.7:c.1820_1825delinsAAGAAG	ENSP00000499438.2:p.Lys607=
ENST00000665585.2:c.2189_2194delinsAAGAAG	ENSP00000499570.2:p.Lys730=
ENST00000666593.2:c.2189_2194delinsAAGAAG	ENSP00000499256.2:p.Lys730=
ENST00000700202.2:c.2189_2194delinsAAGAAG	ENSP00000514856.2:p.Lys730=
ENST00000380152.8:c.2189_2194delinsAAGAAG MANE Select	ENSP00000369497.3:p.Lys730=
ENST00000544455.6:c.2189_2194delinsAAGAAG	ENSP00000439902.1:p.Lys730=
ENST00000614259.2:c.2189_2194delinsAAGAAG	ENSP00000506251.1:p.Lys730=
ENST00000680887.1:c.2189_2194delinsAAGAAG	ENSP00000505508.1:p.Lys730=
ENST00000380152.7:c.2189_2194delinsAAGAAG	ENSP00000369497.3:p.Lys730=
ENST00000544455.5:c.2189_2194delinsAAGAAG	ENSP00000439902.1:p.Lys730=
ENST00000614259.1:n.2189_2194delinsAAGAAG
NM_000059.3:c.2189_2194delinsAAGAAG , LRG_293t1:c.2189_2194delinsAAGAAG	NP_000050.2:p.Lys730=
XM_011535203.1:c.2189_2194delinsAAGAAG	XP_011533505.1:p.Lys730=
XM_011535204.1:c.2189_2194delinsAAGAAG	XP_011533506.1:p.Lys730=
XM_011535205.1:c.2189_2194delinsAAGAAG	XP_011533507.1:p.Lys730=
NM_000059.4:c.2189_2194delinsAAGAAG MANE Select	NP_000050.3:p.Lys730=