Canonical Allele Identifier: CA2082835389
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398337G= , CM000675.2:g.32398337G= GRCh38
NC_000013.10:g.32972474G= , CM000675.1:g.32972474G= GRCh37
NC_000013.9:g.31870474G= NCBI36
NG_012772.3:g.87858G= , LRG_293:g.87858G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*347G= ENSP00000434898.2:n.*347G=
ENST00000528762.2:c.*1191G= ENSP00000433168.2:n.*1191G=
ENST00000530893.7:c.9455G= ENSP00000499438.2:p.Ser3152=
ENST00000665585.2:c.*1386G= ENSP00000499570.2:n.*1386G=
ENST00000700202.2:c.9773G= ENSP00000514856.2:p.Ser3258=
ENST00000700202.1:c.2240G= ENSP00000514856.1:p.Ser747=
ENST00000700203.1:n.1951G=
ENST00000380152.8:c.9824G= MANE Select ENSP00000369497.3:p.Ser3275=
ENST00000544455.6:c.9824G= ENSP00000439902.1:p.Ser3275=
ENST00000614259.2:c.9832G= ENSP00000506251.1:n.9832G=
ENST00000680887.1:c.9824G= ENSP00000505508.1:p.Ser3275=
ENST00000380152.7:c.9824G= ENSP00000369497.3:p.Ser3275=
ENST00000533776.1:n.412G=
ENST00000544455.5:c.9824G= ENSP00000439902.1:p.Ser3275=
NM_000059.3:c.9824G= , LRG_293t1:c.9824G= NP_000050.2:p.Ser3275=
XM_011535203.1:c.9824G= XP_011533505.1:p.Ser3275=
XM_011535204.1:c.9728G= XP_011533506.1:p.Ser3243=
NM_000059.4:c.9824G= MANE Select NP_000050.3:p.Ser3275=