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
ENST00000561514.3:c.3134G>C ENSP00000460666.3:p.Gly1045Ala
ENST00000565038.2:c.*609G>C ENSP00000459882.2:n.*609G>C
ENST00000566069.6:c.3128G>C ENSP00000459237.2:p.Gly1043Ala
ENST00000697377.2:c.2972G>C ENSP00000513286.2:p.Gly991Ala
ENST00000697379.2:c.3134G>C ENSP00000513287.2:p.Gly1045Ala
ENST00000561514.2:c.2243G>C ENSP00000460666.2:p.Gly748Ala
ENST00000697374.1:c.2243G>C ENSP00000513284.1:p.Gly748Ala
ENST00000697375.1:n.4475G>C
ENST00000697376.1:c.2243G>C ENSP00000513285.1:p.Gly748Ala
ENST00000697377.1:c.2081G>C ENSP00000513286.1:p.Gly694Ala
ENST00000697378.1:n.3648G>C
ENST00000697379.1:c.2243G>C ENSP00000513287.1:p.Gly748Ala
ENST00000697380.1:n.2406-6065G>C
ENST00000697381.1:n.1823G>C
ENST00000697382.1:c.2229-6065G>C ENSP00000513288.1:n.2229-6065G>C
ENST00000697383.1:c.662G>C ENSP00000513289.1:p.Gly221Ala
ENST00000261584.9:c.3128G>C MANE Select ENSP00000261584.4:p.Gly1043Ala
ENST00000261584.8:c.3128G>C ENSP00000261584.4:p.Gly1043Ala
ENST00000566069.5:c.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:n.3119+7285G>C
XM_017023672.2:c.3113+7285G>C XP_016879161.1:n.3113+7285G>C
XM_017023673.2:c.3128G>C XP_016879162.1:p.Gly1043Ala
NM_024675.4:c.3128G>C MANE Select NP_078951.2:p.Gly1043Ala