Canonical Allele Identifier: CA3261215921
Community Standard Title: NM_000059.4(BRCA2):c.8570_8571delinsTA (p.Ala2857Val)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32371038_32371039delinsTA , CM000675.2:g.32371038_32371039delinsTA GRCh38
NC_000013.10:g.32945175_32945176delinsTA , CM000675.1:g.32945175_32945176delinsTA GRCh37
NC_000013.9:g.31843175_31843176delinsTA NCBI36
NG_012772.3:g.60559_60560delinsTA , LRG_293:g.60559_60560delinsTA

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.8570_8571delinsTA MANE Select NP_000050.3:p.Ala2857Val
ENST00000380152.8:c.8570_8571delinsTA MANE Select ENSP00000369497.3:p.Ala2857Val
NM_000059.3:c.8570_8571delinsTA , LRG_293t1:c.8570_8571delinsTA NP_000050.2:p.Ala2857Val
ENST00000380152.7:c.8570_8571delinsTA ENSP00000369497.3:p.Ala2857Val
ENST00000470094.2:c.8570_8571delinsTA ENSP00000434898.2:p.Ala2857Val
ENST00000528762.1:c.68_69delinsTA ENSP00000433168.1:p.Ala23Val
ENST00000528762.2:c.8570_8571delinsTA ENSP00000433168.2:p.Ala2857Val
ENST00000530893.7:c.8201_8202delinsTA ENSP00000499438.2:p.Ala2734Val
ENST00000544455.5:c.8570_8571delinsTA ENSP00000439902.1:p.Ala2857Val
ENST00000544455.6:c.8570_8571delinsTA ENSP00000439902.1:p.Ala2857Val
ENST00000614259.2:c.8578_8579delinsTA ENSP00000506251.1:n.8578_8579delinsTA
ENST00000665585.1:c.1135_1136delinsTA
ENST00000665585.2:c.8570_8571delinsTA ENSP00000499570.2:p.Ala2857Val
ENST00000666593.2:c.8570_8571delinsTA ENSP00000499256.2:p.Ala2857Val
ENST00000680887.1:c.8570_8571delinsTA ENSP00000505508.1:p.Ala2857Val
ENST00000700202.1:c.1037_1038delinsTA ENSP00000514856.1:p.Ala346Val
ENST00000700202.2:c.8570_8571delinsTA ENSP00000514856.2:p.Ala2857Val
XM_011535203.1:c.8570_8571delinsTA XP_011533505.1:p.Ala2857Val
XM_011535204.1:c.8474_8475delinsTA XP_011533506.1:p.Ala2825Val
XM_011535205.1:c.8570_8571delinsTA XP_011533507.1:p.Ala2857Val