Canonical Allele Identifier: CA2499222098
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32336485_32336486insAA , CM000675.2:g.32336485_32336486insAA GRCh38
NC_000013.10:g.32910622_32910623insAA , CM000675.1:g.32910622_32910623insAA GRCh37
NC_000013.9:g.31808622_31808623insAA NCBI36
NG_012772.3:g.26006_26007insAA , LRG_293:g.26006_26007insAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.2130_2131insAA ENSP00000434898.2:p.Cys711AsnfsTer20
ENST00000528762.2:c.2130_2131insAA ENSP00000433168.2:p.Cys711AsnfsTer20
ENST00000530893.7:c.1761_1762insAA ENSP00000499438.2:p.Cys588AsnfsTer20
ENST00000665585.2:c.2130_2131insAA ENSP00000499570.2:p.Cys711AsnfsTer20
ENST00000666593.2:c.2130_2131insAA ENSP00000499256.2:p.Cys711AsnfsTer20
ENST00000700202.2:c.2130_2131insAA ENSP00000514856.2:p.Cys711AsnfsTer20
ENST00000380152.8:c.2130_2131insAA MANE Select ENSP00000369497.3:p.Cys711AsnfsTer20
ENST00000544455.6:c.2130_2131insAA ENSP00000439902.1:p.Cys711AsnfsTer20
ENST00000614259.2:c.2130_2131insAA ENSP00000506251.1:p.Cys711AsnfsTer20
ENST00000680887.1:c.2130_2131insAA ENSP00000505508.1:p.Cys711AsnfsTer20
ENST00000380152.7:c.2130_2131insAA ENSP00000369497.3:p.Cys711AsnfsTer20
ENST00000544455.5:c.2130_2131insAA ENSP00000439902.1:p.Cys711AsnfsTer20
ENST00000614259.1:n.2130_2131insAA
NM_000059.3:c.2130_2131insAA , LRG_293t1:c.2130_2131insAA NP_000050.2:p.Cys711AsnfsTer20
XM_011535203.1:c.2130_2131insAA XP_011533505.1:p.Cys711AsnfsTer20
XM_011535204.1:c.2130_2131insAA XP_011533506.1:p.Cys711AsnfsTer20
XM_011535205.1:c.2130_2131insAA XP_011533507.1:p.Cys711AsnfsTer20
NM_000059.4:c.2130_2131insAA MANE Select NP_000050.3:p.Cys711AsnfsTer20