Canonical Allele Identifier: CA3273066071
Community Standard Title: NM_000059.4(BRCA2):c.8503_8505delinsCCC (p.Ser2835Pro)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32370971_32370973delinsCCC , CM000675.2:g.32370971_32370973delinsCCC GRCh38
NC_000013.10:g.32945108_32945110delinsCCC , CM000675.1:g.32945108_32945110delinsCCC GRCh37
NC_000013.9:g.31843108_31843110delinsCCC NCBI36
NG_012772.3:g.60492_60494delinsCCC , LRG_293:g.60492_60494delinsCCC

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.8503_8505delinsCCC MANE Select NP_000050.3:p.Ser2835Pro
ENST00000380152.8:c.8503_8505delinsCCC MANE Select ENSP00000369497.3:p.Ser2835Pro
NM_000059.3:c.8503_8505delinsCCC , LRG_293t1:c.8503_8505delinsCCC NP_000050.2:p.Ser2835Pro
ENST00000380152.7:c.8503_8505delinsCCC ENSP00000369497.3:p.Ser2835Pro
ENST00000470094.2:c.8503_8505delinsCCC ENSP00000434898.2:p.Ser2835Pro
ENST00000528762.1:c.1_3delinsCCC ENSP00000433168.1:p.Ser1Pro
ENST00000528762.2:c.8503_8505delinsCCC ENSP00000433168.2:p.Ser2835Pro
ENST00000530893.7:c.8134_8136delinsCCC ENSP00000499438.2:p.Ser2712Pro
ENST00000544455.5:c.8503_8505delinsCCC ENSP00000439902.1:p.Ser2835Pro
ENST00000544455.6:c.8503_8505delinsCCC ENSP00000439902.1:p.Ser2835Pro
ENST00000614259.2:c.8511_8513delinsCCC ENSP00000506251.1:n.8511_8513delinsCCC
ENST00000665585.1:c.1068_1070delinsCCC
ENST00000665585.2:c.8503_8505delinsCCC ENSP00000499570.2:p.Ser2835Pro
ENST00000666593.2:c.8503_8505delinsCCC ENSP00000499256.2:p.Ser2835Pro
ENST00000680887.1:c.8503_8505delinsCCC ENSP00000505508.1:p.Ser2835Pro
ENST00000700202.1:c.970_972delinsCCC ENSP00000514856.1:p.Ser324Pro
ENST00000700202.2:c.8503_8505delinsCCC ENSP00000514856.2:p.Ser2835Pro
XM_011535203.1:c.8503_8505delinsCCC XP_011533505.1:p.Ser2835Pro
XM_011535204.1:c.8407_8409delinsCCC XP_011533506.1:p.Ser2803Pro
XM_011535205.1:c.8503_8505delinsCCC XP_011533507.1:p.Ser2835Pro