Canonical Allele Identifier: CA279530867
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 922719
ClinVar RCV Id: RCV001182908
dbSNP Id: rs377713277

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23614077C>T , CM000678.2:g.23614077C>T GRCh38
NC_000016.9:g.23625398C>T , CM000678.1:g.23625398C>T GRCh37
NC_000016.8:g.23532899C>T NCBI36
NG_007406.1:g.32281G>A , LRG_308:g.32281G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261584.9:c.3128G>A MANE Select ENSP00000261584.4:p.Gly1043Asp
ENST00000261584.8:c.3128G>A ENSP00000261584.4:p.Gly1043Asp
ENST00000566069.5:n.43G>A
ENST00000568219.5:c.2243G>A ENSP00000454703.2:p.Gly748Asp
NM_024675.3:c.3128G>A , LRG_308t1:c.3128G>A NP_078951.2:p.Gly1043Asp
XM_011545946.1:c.3134G>A XP_011544248.1:p.Gly1045Asp
XM_011545947.1:c.3134G>A XP_011544249.1:p.Gly1045Asp
XM_011545948.1:c.2243G>A XP_011544250.1:p.Gly748Asp
XR_950851.1:n.3910-6065G>A
XM_011545946.2:c.3134G>A XP_011544248.1:p.Gly1045Asp
XM_011545947.2:c.3134G>A XP_011544249.1:p.Gly1045Asp
XM_011545948.2:c.2243G>A XP_011544250.1:p.Gly748Asp
XM_017023671.1:c.3119+7285G>A XP_016879160.1:p.=
XM_017023672.2:c.3113+7285G>A XP_016879161.1:p.=
XM_017023673.2:c.3128G>A XP_016879162.1:p.Gly1043Asp
NM_024675.4:c.3128G>A MANE Select NP_078951.2:p.Gly1043Asp