Canonical Allele Identifier: CA395127487
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs1597090741

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23630228C>G , CM000678.2:g.23630228C>G GRCh38
NC_000016.9:g.23641549C>G , CM000678.1:g.23641549C>G GRCh37
NC_000016.8:g.23549050C>G NCBI36
NG_007406.1:g.16130G>C , LRG_308:g.16130G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1932G>C ENSP00000460666.3:p.Met644Ile
ENST00000565038.2:c.212-953G>C ENSP00000459882.2:n.212-953G>C
ENST00000566069.6:c.1926G>C ENSP00000459237.2:p.Met642Ile
ENST00000697377.2:c.1932G>C ENSP00000513286.2:p.Met644Ile
ENST00000697379.2:c.1932G>C ENSP00000513287.2:p.Met644Ile
ENST00000561514.2:c.1041G>C ENSP00000460666.2:p.Met347Ile
ENST00000697374.1:c.1041G>C ENSP00000513284.1:p.Met347Ile
ENST00000697375.1:n.3273G>C
ENST00000697376.1:c.1041G>C ENSP00000513285.1:p.Met347Ile
ENST00000697377.1:c.1041G>C ENSP00000513286.1:p.Met347Ile
ENST00000697378.1:n.2446G>C
ENST00000697379.1:c.1041G>C ENSP00000513287.1:p.Met347Ile
ENST00000697380.1:n.854G>C
ENST00000697381.1:n.621G>C
ENST00000697382.1:c.1041G>C ENSP00000513288.1:p.Met347Ile
ENST00000697383.1:c.49-953G>C ENSP00000513289.1:n.49-953G>C
ENST00000697384.1:n.2080G>C
ENST00000261584.9:c.1926G>C MANE Select ENSP00000261584.4:p.Met642Ile
ENST00000261584.8:c.1926G>C ENSP00000261584.4:p.Met642Ile
ENST00000565038.1:c.87-953G>C
ENST00000568219.5:c.1041G>C ENSP00000454703.2:p.Met347Ile
NM_024675.3:c.1926G>C , LRG_308t1:c.1926G>C NP_078951.2:p.Met642Ile
XM_011545946.1:c.1932G>C XP_011544248.1:p.Met644Ile
XM_011545947.1:c.1932G>C XP_011544249.1:p.Met644Ile
XM_011545948.1:c.1041G>C XP_011544250.1:p.Met347Ile
XR_950851.1:n.2722G>C
XM_011545946.2:c.1932G>C XP_011544248.1:p.Met644Ile
XM_011545947.2:c.1932G>C XP_011544249.1:p.Met644Ile
XM_011545948.2:c.1041G>C XP_011544250.1:p.Met347Ile
XM_017023671.1:c.1932G>C XP_016879160.1:p.Met644Ile
XM_017023672.2:c.1926G>C XP_016879161.1:p.Met642Ile
XM_017023673.2:c.1926G>C XP_016879162.1:p.Met642Ile
NM_024675.4:c.1926G>C MANE Select NP_078951.2:p.Met642Ile