Canonical Allele Identifier: CA395124864
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs2142374941

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23629802T>A , CM000678.2:g.23629802T>A GRCh38
NC_000016.9:g.23641123T>A , CM000678.1:g.23641123T>A GRCh37
NC_000016.8:g.23548624T>A NCBI36
NG_007406.1:g.16556A>T , LRG_308:g.16556A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.2358A>T ENSP00000460666.3:p.Lys786Asn
ENST00000565038.2:c.212-527A>T ENSP00000459882.2:n.212-527A>T
ENST00000566069.6:c.2352A>T ENSP00000459237.2:p.Lys784Asn
ENST00000697377.2:c.2358A>T ENSP00000513286.2:p.Lys786Asn
ENST00000697379.2:c.2358A>T ENSP00000513287.2:p.Lys786Asn
ENST00000561514.2:c.1467A>T ENSP00000460666.2:p.Lys489Asn
ENST00000697374.1:c.1467A>T ENSP00000513284.1:p.Lys489Asn
ENST00000697375.1:n.3699A>T
ENST00000697376.1:c.1467A>T ENSP00000513285.1:p.Lys489Asn
ENST00000697377.1:c.1467A>T ENSP00000513286.1:p.Lys489Asn
ENST00000697378.1:n.2872A>T
ENST00000697379.1:c.1467A>T ENSP00000513287.1:p.Lys489Asn
ENST00000697380.1:n.1280A>T
ENST00000697381.1:n.1047A>T
ENST00000697382.1:c.1467A>T ENSP00000513288.1:p.Lys489Asn
ENST00000697383.1:c.49-527A>T ENSP00000513289.1:n.49-527A>T
ENST00000697384.1:n.2506A>T
ENST00000261584.9:c.2352A>T MANE Select ENSP00000261584.4:p.Lys784Asn
ENST00000261584.8:c.2352A>T ENSP00000261584.4:p.Lys784Asn
ENST00000565038.1:c.87-527A>T
ENST00000568219.5:c.1467A>T ENSP00000454703.2:p.Lys489Asn
NM_024675.3:c.2352A>T , LRG_308t1:c.2352A>T NP_078951.2:p.Lys784Asn
XM_011545946.1:c.2358A>T XP_011544248.1:p.Lys786Asn
XM_011545947.1:c.2358A>T XP_011544249.1:p.Lys786Asn
XM_011545948.1:c.1467A>T XP_011544250.1:p.Lys489Asn
XR_950851.1:n.3148A>T
XM_011545946.2:c.2358A>T XP_011544248.1:p.Lys786Asn
XM_011545947.2:c.2358A>T XP_011544249.1:p.Lys786Asn
XM_011545948.2:c.1467A>T XP_011544250.1:p.Lys489Asn
XM_017023671.1:c.2358A>T XP_016879160.1:p.Lys786Asn
XM_017023672.2:c.2352A>T XP_016879161.1:p.Lys784Asn
XM_017023673.2:c.2352A>T XP_016879162.1:p.Lys784Asn
NM_024675.4:c.2352A>T MANE Select NP_078951.2:p.Lys784Asn