Canonical Allele Identifier: CA279524893
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 460999
dbSNP Id: rs146659762

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603502G>A , CM000678.2:g.23603502G>A GRCh38
NC_000016.9:g.23614823G>A , CM000678.1:g.23614823G>A GRCh37
NC_000016.8:g.23522324G>A NCBI36
NG_007406.1:g.42856C>T , LRG_308:g.42856C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3524C>T ENSP00000460666.3:p.Ala1175Val
ENST00000565038.2:c.*1003C>T ENSP00000459882.2:n.*1003C>T
ENST00000566069.6:c.*153C>T ENSP00000459237.2:n.*153C>T
ENST00000697377.2:c.3362C>T ENSP00000513286.2:p.Ala1121Val
ENST00000697379.2:c.3524C>T ENSP00000513287.2:p.Ala1175Val
ENST00000561514.2:c.2633C>T ENSP00000460666.2:p.Ala878Val
ENST00000697374.1:c.2633C>T ENSP00000513284.1:p.Ala878Val
ENST00000697375.1:n.4865C>T
ENST00000697376.1:c.*153C>T ENSP00000513285.1:n.*153C>T
ENST00000697377.1:c.2471C>T ENSP00000513286.1:p.Ala824Val
ENST00000697378.1:n.4038C>T
ENST00000697379.1:c.2633C>T ENSP00000513287.1:p.Ala878Val
ENST00000697380.1:n.2722C>T
ENST00000697381.1:n.2213C>T
ENST00000697382.1:c.*295C>T ENSP00000513288.1:n.*295C>T
ENST00000697383.1:c.1052C>T ENSP00000513289.1:p.Ala351Val
ENST00000261584.9:c.3518C>T MANE Select ENSP00000261584.4:p.Ala1173Val
ENST00000261584.8:c.3518C>T ENSP00000261584.4:p.Ala1173Val
ENST00000566069.5:c.284C>T
ENST00000568219.5:c.2633C>T ENSP00000454703.2:p.Ala878Val
NM_024675.3:c.3518C>T , LRG_308t1:c.3518C>T NP_078951.2:p.Ala1173Val
XM_011545946.1:c.3524C>T XP_011544248.1:p.Ala1175Val
XM_011545947.1:c.*153C>T XP_011544249.1:n.*153C>T
XM_011545948.1:c.2633C>T XP_011544250.1:p.Ala878Val
XR_950851.1:n.4226C>T
XM_011545946.2:c.3524C>T XP_011544248.1:p.Ala1175Val
XM_011545947.2:c.*153C>T XP_011544249.1:n.*153C>T
XM_011545948.2:c.2633C>T XP_011544250.1:p.Ala878Val
XM_017023671.1:c.3287C>T XP_016879160.1:p.Ala1096Val
XM_017023672.2:c.3281C>T XP_016879161.1:p.Ala1094Val
XM_017023673.2:c.*153C>T XP_016879162.1:n.*153C>T
NM_024675.4:c.3518C>T MANE Select NP_078951.2:p.Ala1173Val