Canonical Allele Identifier: CA395145133
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs1555459734

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23624069A>T , CM000678.2:g.23624069A>T GRCh38
NC_000016.9:g.23635390A>T , CM000678.1:g.23635390A>T GRCh37
NC_000016.8:g.23542891A>T NCBI36
NG_007406.1:g.22289T>A , LRG_308:g.22289T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2780T>A ENSP00000460666.3:p.Val927Glu
ENST00000565038.2:c.*255T>A ENSP00000459882.2:n.*255T>A
ENST00000566069.6:c.2774T>A ENSP00000459237.2:p.Val925Glu
ENST00000697377.2:c.2618T>A ENSP00000513286.2:p.Val873Glu
ENST00000697379.2:c.2780T>A ENSP00000513287.2:p.Val927Glu
ENST00000561514.2:c.1889T>A ENSP00000460666.2:p.Val630Glu
ENST00000697374.1:c.1889T>A ENSP00000513284.1:p.Val630Glu
ENST00000697375.1:n.4121T>A
ENST00000697376.1:c.1889T>A ENSP00000513285.1:p.Val630Glu
ENST00000697377.1:c.1727T>A ENSP00000513286.1:p.Val576Glu
ENST00000697378.1:n.3294T>A
ENST00000697379.1:c.1889T>A ENSP00000513287.1:p.Val630Glu
ENST00000697380.1:n.2066T>A
ENST00000697381.1:n.1469T>A
ENST00000697382.1:c.1889T>A ENSP00000513288.1:p.Val630Glu
ENST00000697383.1:c.308T>A ENSP00000513289.1:p.Val103Glu
ENST00000261584.9:c.2774T>A MANE Select ENSP00000261584.4:p.Val925Glu
ENST00000261584.8:c.2774T>A ENSP00000261584.4:p.Val925Glu
ENST00000568219.5:c.1889T>A ENSP00000454703.2:p.Val630Glu
NM_024675.3:c.2774T>A , LRG_308t1:c.2774T>A NP_078951.2:p.Val925Glu
XM_011545946.1:c.2780T>A XP_011544248.1:p.Val927Glu
XM_011545947.1:c.2780T>A XP_011544249.1:p.Val927Glu
XM_011545948.1:c.1889T>A XP_011544250.1:p.Val630Glu
XR_950851.1:n.3570T>A
XM_011545946.2:c.2780T>A XP_011544248.1:p.Val927Glu
XM_011545947.2:c.2780T>A XP_011544249.1:p.Val927Glu
XM_011545948.2:c.1889T>A XP_011544250.1:p.Val630Glu
XM_017023671.1:c.2780T>A XP_016879160.1:p.Val927Glu
XM_017023672.2:c.2774T>A XP_016879161.1:p.Val925Glu
XM_017023673.2:c.2774T>A XP_016879162.1:p.Val925Glu
NM_024675.4:c.2774T>A MANE Select NP_078951.2:p.Val925Glu