Canonical Allele Identifier: CA395129930
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 629596
ClinVar RCV Id: RCV000774306
dbSNP Id: rs766583287

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23634873A>C , CM000678.2:g.23634873A>C GRCh38
NC_000016.9:g.23646194A>C , CM000678.1:g.23646194A>C GRCh37
NC_000016.8:g.23553695A>C NCBI36
NG_007406.1:g.11485T>G , LRG_308:g.11485T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1679T>G ENSP00000460666.3:p.Ile560Ser
ENST00000565038.2:c.211+2977T>G ENSP00000459882.2:n.211+2977T>G
ENST00000566069.6:c.1673T>G ENSP00000459237.2:p.Ile558Ser
ENST00000697377.2:c.1679T>G ENSP00000513286.2:p.Ile560Ser
ENST00000697379.2:c.1679T>G ENSP00000513287.2:p.Ile560Ser
ENST00000561514.2:c.788T>G ENSP00000460666.2:p.Ile263Ser
ENST00000697374.1:c.788T>G ENSP00000513284.1:p.Ile263Ser
ENST00000697375.1:n.3020T>G
ENST00000697376.1:c.788T>G ENSP00000513285.1:p.Ile263Ser
ENST00000697377.1:c.788T>G ENSP00000513286.1:p.Ile263Ser
ENST00000697378.1:n.2193T>G
ENST00000697379.1:c.788T>G ENSP00000513287.1:p.Ile263Ser
ENST00000697382.1:c.788T>G ENSP00000513288.1:p.Ile263Ser
ENST00000697383.1:c.49-5598T>G ENSP00000513289.1:n.49-5598T>G
ENST00000697384.1:n.1827T>G
ENST00000261584.9:c.1673T>G MANE Select ENSP00000261584.4:p.Ile558Ser
ENST00000261584.8:c.1673T>G ENSP00000261584.4:p.Ile558Ser
ENST00000565038.1:c.86+2977T>G
ENST00000568219.5:c.788T>G ENSP00000454703.2:p.Ile263Ser
NM_024675.3:c.1673T>G , LRG_308t1:c.1673T>G NP_078951.2:p.Ile558Ser
XM_011545946.1:c.1679T>G XP_011544248.1:p.Ile560Ser
XM_011545947.1:c.1679T>G XP_011544249.1:p.Ile560Ser
XM_011545948.1:c.788T>G XP_011544250.1:p.Ile263Ser
XR_950851.1:n.2469T>G
XM_011545946.2:c.1679T>G XP_011544248.1:p.Ile560Ser
XM_011545947.2:c.1679T>G XP_011544249.1:p.Ile560Ser
XM_011545948.2:c.788T>G XP_011544250.1:p.Ile263Ser
XM_017023671.1:c.1679T>G XP_016879160.1:p.Ile560Ser
XM_017023672.2:c.1673T>G XP_016879161.1:p.Ile558Ser
XM_017023673.2:c.1673T>G XP_016879162.1:p.Ile558Ser
NM_024675.4:c.1673T>G MANE Select NP_078951.2:p.Ile558Ser