Canonical Allele Identifier: CA2082815254
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32356560T= , CM000675.2:g.32356560T= GRCh38
NC_000013.10:g.32930697T= , CM000675.1:g.32930697T= GRCh37
NC_000013.9:g.31828697T= NCBI36
NG_012772.3:g.46081T= , LRG_293:g.46081T=

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.7568T= ENSP00000434898.2:p.Leu2523=
ENST00000528762.2:c.7568T= ENSP00000433168.2:p.Leu2523=
ENST00000530893.7:c.7199T= ENSP00000499438.2:p.Leu2400=
ENST00000665585.2:c.7568T= ENSP00000499570.2:p.Leu2523=
ENST00000666593.2:c.7568T= ENSP00000499256.2:p.Leu2523=
ENST00000700202.2:c.7568T= ENSP00000514856.2:p.Leu2523=
ENST00000700202.1:c.35T= ENSP00000514856.1:p.Leu12=
ENST00000380152.8:c.7568T= MANE Select ENSP00000369497.3:p.Leu2523=
ENST00000544455.6:c.7568T= ENSP00000439902.1:p.Leu2523=
ENST00000614259.2:c.7568T= ENSP00000506251.1:p.Leu2523=
ENST00000665585.1:c.133T=
ENST00000680887.1:c.7568T= ENSP00000505508.1:p.Leu2523=
ENST00000380152.7:c.7568T= ENSP00000369497.3:p.Leu2523=
ENST00000544455.5:c.7568T= ENSP00000439902.1:p.Leu2523=
ENST00000614259.1:n.7568T=
NM_000059.3:c.7568T= , LRG_293t1:c.7568T= NP_000050.2:p.Leu2523=
XM_011535203.1:c.7568T= XP_011533505.1:p.Leu2523=
XM_011535204.1:c.7472T= XP_011533506.1:p.Leu2491=
XM_011535205.1:c.7568T= XP_011533507.1:p.Leu2523=
NM_000059.4:c.7568T= MANE Select NP_000050.3:p.Leu2523=