Canonical Allele Identifier: CA395137585
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs2142250676

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603463G>A , CM000678.2:g.23603463G>A GRCh38
NC_000016.9:g.23614784G>A , CM000678.1:g.23614784G>A GRCh37
NC_000016.8:g.23522285G>A NCBI36
NG_007406.1:g.42895C>T , LRG_308:g.42895C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3563C>T ENSP00000460666.3:p.Ser1188Leu
ENST00000565038.2:c.*1042C>T ENSP00000459882.2:n.*1042C>T
ENST00000566069.6:c.*192C>T ENSP00000459237.2:n.*192C>T
ENST00000697377.2:c.3401C>T ENSP00000513286.2:p.Ser1134Leu
ENST00000697379.2:c.3563C>T ENSP00000513287.2:p.Ser1188Leu
ENST00000561514.2:c.2672C>T ENSP00000460666.2:p.Ser891Leu
ENST00000697374.1:c.2672C>T ENSP00000513284.1:p.Ser891Leu
ENST00000697375.1:n.4904C>T
ENST00000697376.1:c.*192C>T ENSP00000513285.1:n.*192C>T
ENST00000697377.1:c.2510C>T ENSP00000513286.1:p.Ser837Leu
ENST00000697378.1:n.4077C>T
ENST00000697379.1:c.2672C>T ENSP00000513287.1:p.Ser891Leu
ENST00000697380.1:n.2761C>T
ENST00000697381.1:n.2252C>T
ENST00000697382.1:c.*334C>T ENSP00000513288.1:n.*334C>T
ENST00000697383.1:c.1091C>T ENSP00000513289.1:p.Ser364Leu
ENST00000261584.9:c.3557C>T MANE Select ENSP00000261584.4:p.Ser1186Leu
ENST00000261584.8:c.3557C>T ENSP00000261584.4:p.Ser1186Leu
ENST00000566069.5:c.323C>T
ENST00000568219.5:c.2672C>T ENSP00000454703.2:p.Ser891Leu
NM_024675.3:c.3557C>T , LRG_308t1:c.3557C>T NP_078951.2:p.Ser1186Leu
XM_011545946.1:c.3563C>T XP_011544248.1:p.Ser1188Leu
XM_011545947.1:c.*192C>T XP_011544249.1:n.*192C>T
XM_011545948.1:c.2672C>T XP_011544250.1:p.Ser891Leu
XR_950851.1:n.4265C>T
XM_011545946.2:c.3563C>T XP_011544248.1:p.Ser1188Leu
XM_011545947.2:c.*192C>T XP_011544249.1:n.*192C>T
XM_011545948.2:c.2672C>T XP_011544250.1:p.Ser891Leu
XM_017023671.1:c.3326C>T XP_016879160.1:p.Ser1109Leu
XM_017023672.2:c.3320C>T XP_016879161.1:p.Ser1107Leu
XM_017023673.2:c.*192C>T XP_016879162.1:n.*192C>T
NM_024675.4:c.3557C>T MANE Select NP_078951.2:p.Ser1186Leu