Canonical Allele Identifier: CA395138103
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1731530
ClinVar RCV Id: RCV002460203
dbSNP Id: rs45566737

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603571A>G , CM000678.2:g.23603571A>G GRCh38
NC_000016.9:g.23614892A>G , CM000678.1:g.23614892A>G GRCh37
NC_000016.8:g.23522393A>G NCBI36
NG_007406.1:g.42787T>C , LRG_308:g.42787T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3455T>C ENSP00000460666.3:p.Leu1152Pro
ENST00000565038.2:c.*934T>C ENSP00000459882.2:n.*934T>C
ENST00000566069.6:c.*84T>C ENSP00000459237.2:n.*84T>C
ENST00000697377.2:c.3293T>C ENSP00000513286.2:p.Leu1098Pro
ENST00000697379.2:c.3455T>C ENSP00000513287.2:p.Leu1152Pro
ENST00000561514.2:c.2564T>C ENSP00000460666.2:p.Leu855Pro
ENST00000697374.1:c.2564T>C ENSP00000513284.1:p.Leu855Pro
ENST00000697375.1:n.4796T>C
ENST00000697376.1:c.*84T>C ENSP00000513285.1:n.*84T>C
ENST00000697377.1:c.2402T>C ENSP00000513286.1:p.Leu801Pro
ENST00000697378.1:n.3969T>C
ENST00000697379.1:c.2564T>C ENSP00000513287.1:p.Leu855Pro
ENST00000697380.1:n.2653T>C
ENST00000697381.1:n.2144T>C
ENST00000697382.1:c.*226T>C ENSP00000513288.1:n.*226T>C
ENST00000697383.1:c.983T>C ENSP00000513289.1:p.Leu328Pro
ENST00000261584.9:c.3449T>C MANE Select ENSP00000261584.4:p.Leu1150Pro
ENST00000261584.8:c.3449T>C ENSP00000261584.4:p.Leu1150Pro
ENST00000566069.5:c.215T>C
ENST00000568219.5:c.2564T>C ENSP00000454703.2:p.Leu855Pro
NM_024675.3:c.3449T>C , LRG_308t1:c.3449T>C NP_078951.2:p.Leu1150Pro
XM_011545946.1:c.3455T>C XP_011544248.1:p.Leu1152Pro
XM_011545947.1:c.*84T>C XP_011544249.1:n.*84T>C
XM_011545948.1:c.2564T>C XP_011544250.1:p.Leu855Pro
XR_950851.1:n.4157T>C
XM_011545946.2:c.3455T>C XP_011544248.1:p.Leu1152Pro
XM_011545947.2:c.*84T>C XP_011544249.1:n.*84T>C
XM_011545948.2:c.2564T>C XP_011544250.1:p.Leu855Pro
XM_017023671.1:c.3218T>C XP_016879160.1:p.Leu1073Pro
XM_017023672.2:c.3212T>C XP_016879161.1:p.Leu1071Pro
XM_017023673.2:c.*84T>C XP_016879162.1:n.*84T>C
NM_024675.4:c.3449T>C MANE Select NP_078951.2:p.Leu1150Pro