Canonical Allele Identifier: CA026244
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 52878
ClinVar RCV Id: RCV000114139
dbSNP Id: rs80359809

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32397042C>T , CM000675.2:g.32397042C>T GRCh38
NC_000013.10:g.32971179C>T , CM000675.1:g.32971179C>T GRCh37
NC_000013.9:g.31869179C>T NCBI36
NG_012772.3:g.86563C>T , LRG_293:g.86563C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000380152.8:c.9646C>T MANE Select ENSP00000369497.3:p.Leu3216=
ENST00000544455.6:c.9646C>T ENSP00000439902.1:p.Leu3216=
ENST00000614259.2:n.9654C>T ENSP00000506251.1:p.=
ENST00000665585.1:n.2524C>T
ENST00000680887.1:c.9646C>T ENSP00000505508.1:p.Leu3216=
ENST00000380152.7:c.9646C>T ENSP00000369497.3:p.Leu3216=
ENST00000470094.1:n.729C>T
ENST00000533776.1:n.234C>T
ENST00000544455.5:c.9646C>T ENSP00000439902.1:p.Leu3216=
NM_000059.3:c.9646C>T , LRG_293t1:c.9646C>T NP_000050.2:p.Leu3216=
XM_011535203.1:c.9646C>T XP_011533505.1:p.Leu3216=
XM_011535204.1:c.9550C>T XP_011533506.1:p.Leu3184=
NM_000059.4:c.9646C>T MANE Select NP_000050.3:p.Leu3216=