Canonical Allele Identifier: CA395138078
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2503305
dbSNP Id: rs1966399624

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603563G>C , CM000678.2:g.23603563G>C GRCh38
NC_000016.9:g.23614884G>C , CM000678.1:g.23614884G>C GRCh37
NC_000016.8:g.23522385G>C NCBI36
NG_007406.1:g.42795C>G , LRG_308:g.42795C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.3463C>G ENSP00000460666.3:p.Pro1155Ala
ENST00000565038.2:c.*942C>G ENSP00000459882.2:n.*942C>G
ENST00000566069.6:c.*92C>G ENSP00000459237.2:n.*92C>G
ENST00000697377.2:c.3301C>G ENSP00000513286.2:p.Pro1101Ala
ENST00000697379.2:c.3463C>G ENSP00000513287.2:p.Pro1155Ala
ENST00000561514.2:c.2572C>G ENSP00000460666.2:p.Pro858Ala
ENST00000697374.1:c.2572C>G ENSP00000513284.1:p.Pro858Ala
ENST00000697375.1:n.4804C>G
ENST00000697376.1:c.*92C>G ENSP00000513285.1:n.*92C>G
ENST00000697377.1:c.2410C>G ENSP00000513286.1:p.Pro804Ala
ENST00000697378.1:n.3977C>G
ENST00000697379.1:c.2572C>G ENSP00000513287.1:p.Pro858Ala
ENST00000697380.1:n.2661C>G
ENST00000697381.1:n.2152C>G
ENST00000697382.1:c.*234C>G ENSP00000513288.1:n.*234C>G
ENST00000697383.1:c.991C>G ENSP00000513289.1:p.Pro331Ala
ENST00000261584.9:c.3457C>G MANE Select ENSP00000261584.4:p.Pro1153Ala
ENST00000261584.8:c.3457C>G ENSP00000261584.4:p.Pro1153Ala
ENST00000566069.5:c.223C>G
ENST00000568219.5:c.2572C>G ENSP00000454703.2:p.Pro858Ala
NM_024675.3:c.3457C>G , LRG_308t1:c.3457C>G NP_078951.2:p.Pro1153Ala
XM_011545946.1:c.3463C>G XP_011544248.1:p.Pro1155Ala
XM_011545947.1:c.*92C>G XP_011544249.1:n.*92C>G
XM_011545948.1:c.2572C>G XP_011544250.1:p.Pro858Ala
XR_950851.1:n.4165C>G
XM_011545946.2:c.3463C>G XP_011544248.1:p.Pro1155Ala
XM_011545947.2:c.*92C>G XP_011544249.1:n.*92C>G
XM_011545948.2:c.2572C>G XP_011544250.1:p.Pro858Ala
XM_017023671.1:c.3226C>G XP_016879160.1:p.Pro1076Ala
XM_017023672.2:c.3220C>G XP_016879161.1:p.Pro1074Ala
XM_017023673.2:c.*92C>G XP_016879162.1:n.*92C>G
NM_024675.4:c.3457C>G MANE Select NP_078951.2:p.Pro1153Ala