Canonical Allele Identifier: CA294183
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 126708
dbSNP Id: rs183489969

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621421C>G , CM000678.2:g.23621421C>G GRCh38
NC_000016.9:g.23632742C>G , CM000678.1:g.23632742C>G GRCh37
NC_000016.8:g.23540243C>G NCBI36
NG_007406.1:g.24937G>C , LRG_308:g.24937G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3060G>C ENSP00000460666.3:p.Glu1020Asp
ENST00000565038.2:c.*535G>C ENSP00000459882.2:n.*535G>C
ENST00000566069.6:c.3054G>C ENSP00000459237.2:p.Glu1018Asp
ENST00000697377.2:c.2898G>C ENSP00000513286.2:p.Glu966Asp
ENST00000697379.2:c.3060G>C ENSP00000513287.2:p.Glu1020Asp
ENST00000561514.2:c.2169G>C ENSP00000460666.2:p.Glu723Asp
ENST00000697374.1:c.2169G>C ENSP00000513284.1:p.Glu723Asp
ENST00000697375.1:n.4401G>C
ENST00000697376.1:c.2169G>C ENSP00000513285.1:p.Glu723Asp
ENST00000697377.1:c.2007G>C ENSP00000513286.1:p.Glu669Asp
ENST00000697378.1:n.3574G>C
ENST00000697379.1:c.2169G>C ENSP00000513287.1:p.Glu723Asp
ENST00000697380.1:n.2346G>C
ENST00000697381.1:n.1749G>C
ENST00000697382.1:c.2169G>C ENSP00000513288.1:p.Glu723Asp
ENST00000697383.1:c.588G>C ENSP00000513289.1:p.Glu196Asp
ENST00000261584.9:c.3054G>C MANE Select ENSP00000261584.4:p.Glu1018Asp
ENST00000261584.8:c.3054G>C ENSP00000261584.4:p.Glu1018Asp
ENST00000568219.5:c.2169G>C ENSP00000454703.2:p.Glu723Asp
NM_024675.3:c.3054G>C , LRG_308t1:c.3054G>C NP_078951.2:p.Glu1018Asp
XM_011545946.1:c.3060G>C XP_011544248.1:p.Glu1020Asp
XM_011545947.1:c.3060G>C XP_011544249.1:p.Glu1020Asp
XM_011545948.1:c.2169G>C XP_011544250.1:p.Glu723Asp
XR_950851.1:n.3850G>C
XM_011545946.2:c.3060G>C XP_011544248.1:p.Glu1020Asp
XM_011545947.2:c.3060G>C XP_011544249.1:p.Glu1020Asp
XM_011545948.2:c.2169G>C XP_011544250.1:p.Glu723Asp
XM_017023671.1:c.3060G>C XP_016879160.1:p.Glu1020Asp
XM_017023672.2:c.3054G>C XP_016879161.1:p.Glu1018Asp
XM_017023673.2:c.3054G>C XP_016879162.1:p.Glu1018Asp
NM_024675.4:c.3054G>C MANE Select NP_078951.2:p.Glu1018Asp