Canonical Allele Identifier: CA395124717
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 631288
ClinVar RCV Id: RCV000777462
dbSNP Id: rs1567217463

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23629783C>T , CM000678.2:g.23629783C>T GRCh38
NC_000016.9:g.23641104C>T , CM000678.1:g.23641104C>T GRCh37
NC_000016.8:g.23548605C>T NCBI36
NG_007406.1:g.16575G>A , LRG_308:g.16575G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2377G>A ENSP00000460666.3:p.Val793Met
ENST00000565038.2:c.212-508G>A ENSP00000459882.2:n.212-508G>A
ENST00000566069.6:c.2371G>A ENSP00000459237.2:p.Val791Met
ENST00000697377.2:c.2377G>A ENSP00000513286.2:p.Val793Met
ENST00000697379.2:c.2377G>A ENSP00000513287.2:p.Val793Met
ENST00000561514.2:c.1486G>A ENSP00000460666.2:p.Val496Met
ENST00000697374.1:c.1486G>A ENSP00000513284.1:p.Val496Met
ENST00000697375.1:n.3718G>A
ENST00000697376.1:c.1486G>A ENSP00000513285.1:p.Val496Met
ENST00000697377.1:c.1486G>A ENSP00000513286.1:p.Val496Met
ENST00000697378.1:n.2891G>A
ENST00000697379.1:c.1486G>A ENSP00000513287.1:p.Val496Met
ENST00000697380.1:n.1299G>A
ENST00000697381.1:n.1066G>A
ENST00000697382.1:c.1486G>A ENSP00000513288.1:p.Val496Met
ENST00000697383.1:c.49-508G>A ENSP00000513289.1:n.49-508G>A
ENST00000697384.1:n.2525G>A
ENST00000261584.9:c.2371G>A MANE Select ENSP00000261584.4:p.Val791Met
ENST00000261584.8:c.2371G>A ENSP00000261584.4:p.Val791Met
ENST00000565038.1:c.87-508G>A
ENST00000568219.5:c.1486G>A ENSP00000454703.2:p.Val496Met
NM_024675.3:c.2371G>A , LRG_308t1:c.2371G>A NP_078951.2:p.Val791Met
XM_011545946.1:c.2377G>A XP_011544248.1:p.Val793Met
XM_011545947.1:c.2377G>A XP_011544249.1:p.Val793Met
XM_011545948.1:c.1486G>A XP_011544250.1:p.Val496Met
XR_950851.1:n.3167G>A
XM_011545946.2:c.2377G>A XP_011544248.1:p.Val793Met
XM_011545947.2:c.2377G>A XP_011544249.1:p.Val793Met
XM_011545948.2:c.1486G>A XP_011544250.1:p.Val496Met
XM_017023671.1:c.2377G>A XP_016879160.1:p.Val793Met
XM_017023672.2:c.2371G>A XP_016879161.1:p.Val791Met
XM_017023673.2:c.2371G>A XP_016879162.1:p.Val791Met
NM_024675.4:c.2371G>A MANE Select NP_078951.2:p.Val791Met