Canonical Allele Identifier: CA387778702
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 628454
ClinVar RCV Id: RCV000772924
dbSNP Id: rs41293485

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32338224G>T , CM000675.2:g.32338224G>T GRCh38
NC_000013.10:g.32912361G>T , CM000675.1:g.32912361G>T GRCh37
NC_000013.9:g.31810361G>T NCBI36
NG_012772.3:g.27745G>T , LRG_293:g.27745G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.3869G>T ENSP00000434898.2:p.Cys1290Phe
ENST00000528762.2:c.3869G>T ENSP00000433168.2:p.Cys1290Phe
ENST00000530893.7:c.3500G>T ENSP00000499438.2:p.Cys1167Phe
ENST00000665585.2:c.3869G>T ENSP00000499570.2:p.Cys1290Phe
ENST00000666593.2:c.3869G>T ENSP00000499256.2:p.Cys1290Phe
ENST00000700202.2:c.3869G>T ENSP00000514856.2:p.Cys1290Phe
ENST00000380152.8:c.3869G>T MANE Select ENSP00000369497.3:p.Cys1290Phe
ENST00000544455.6:c.3869G>T ENSP00000439902.1:p.Cys1290Phe
ENST00000614259.2:c.3869G>T ENSP00000506251.1:p.Cys1290Phe
ENST00000680887.1:c.3869G>T ENSP00000505508.1:p.Cys1290Phe
ENST00000380152.7:c.3869G>T ENSP00000369497.3:p.Cys1290Phe
ENST00000544455.5:c.3869G>T ENSP00000439902.1:p.Cys1290Phe
ENST00000614259.1:n.3869G>T
NM_000059.3:c.3869G>T , LRG_293t1:c.3869G>T NP_000050.2:p.Cys1290Phe
XM_011535203.1:c.3869G>T XP_011533505.1:p.Cys1290Phe
XM_011535204.1:c.3869G>T XP_011533506.1:p.Cys1290Phe
XM_011535205.1:c.3869G>T XP_011533507.1:p.Cys1290Phe
NM_000059.4:c.3869G>T MANE Select NP_000050.3:p.Cys1290Phe