Canonical Allele Identifier: CA168501
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 126716
dbSNP Id: rs377713277

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000261584.9:c.3128G>C MANE Select ENSP00000261584.4:p.Gly1043Ala
ENST00000261584.8:c.3128G>C ENSP00000261584.4:p.Gly1043Ala
ENST00000566069.5:n.43G>C
ENST00000568219.5:c.2243G>C ENSP00000454703.2:p.Gly748Ala
NM_024675.3:c.3128G>C , LRG_308t1:c.3128G>C NP_078951.2:p.Gly1043Ala
XM_011545946.1:c.3134G>C XP_011544248.1:p.Gly1045Ala
XM_011545947.1:c.3134G>C XP_011544249.1:p.Gly1045Ala
XM_011545948.1:c.2243G>C XP_011544250.1:p.Gly748Ala
XR_950851.1:n.3910-6065G>C
XM_011545946.2:c.3134G>C XP_011544248.1:p.Gly1045Ala
XM_011545947.2:c.3134G>C XP_011544249.1:p.Gly1045Ala
XM_011545948.2:c.2243G>C XP_011544250.1:p.Gly748Ala
XM_017023671.1:c.3119+7285G>C XP_016879160.1:p.=
XM_017023672.2:c.3113+7285G>C XP_016879161.1:p.=
XM_017023673.2:c.3128G>C XP_016879162.1:p.Gly1043Ala
NM_024675.4:c.3128G>C MANE Select NP_078951.2:p.Gly1043Ala