Canonical Allele Identifier: CA2732052581
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs2142352044

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23626156C>G , CM000678.2:g.23626156C>G GRCh38
NC_000016.9:g.23637477C>G , CM000678.1:g.23637477C>G GRCh37
NC_000016.8:g.23544978C>G NCBI36
NG_007406.1:g.20202G>C , LRG_308:g.20202G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.2754+80G>C ENSP00000460666.3:n.2754+80G>C
ENST00000565038.2:c.*229+80G>C ENSP00000459882.2:n.*229+80G>C
ENST00000566069.6:c.2748+80G>C ENSP00000459237.2:n.2748+80G>C
ENST00000697377.2:c.2593-2062G>C ENSP00000513286.2:n.2593-2062G>C
ENST00000697379.2:c.2754+80G>C ENSP00000513287.2:n.2754+80G>C
ENST00000561514.2:c.1863+80G>C ENSP00000460666.2:n.1863+80G>C
ENST00000697374.1:c.1863+80G>C ENSP00000513284.1:n.1863+80G>C
ENST00000697375.1:n.4095+80G>C
ENST00000697376.1:c.1863+80G>C ENSP00000513285.1:n.1863+80G>C
ENST00000697377.1:c.1702-2062G>C ENSP00000513286.1:n.1702-2062G>C
ENST00000697378.1:n.3268+80G>C
ENST00000697379.1:c.1863+80G>C ENSP00000513287.1:n.1863+80G>C
ENST00000697380.1:n.2040+80G>C
ENST00000697381.1:n.1443+80G>C
ENST00000697382.1:c.1863+80G>C ENSP00000513288.1:n.1863+80G>C
ENST00000697383.1:c.282+80G>C ENSP00000513289.1:n.282+80G>C
ENST00000261584.9:c.2748+80G>C MANE Select ENSP00000261584.4:n.2748+80G>C
ENST00000261584.8:c.2748+80G>C ENSP00000261584.4:n.2748+80G>C
ENST00000565038.1:c.320+80G>C
ENST00000568219.5:c.1863+80G>C ENSP00000454703.2:n.1863+80G>C
NM_024675.3:c.2748+80G>C , LRG_308t1:c.2748+80G>C NP_078951.2:n.2748+80G>C
XM_011545946.1:c.2754+80G>C XP_011544248.1:n.2754+80G>C
XM_011545947.1:c.2754+80G>C XP_011544249.1:n.2754+80G>C
XM_011545948.1:c.1863+80G>C XP_011544250.1:n.1863+80G>C
XR_950851.1:n.3544+80G>C
XM_011545946.2:c.2754+80G>C XP_011544248.1:n.2754+80G>C
XM_011545947.2:c.2754+80G>C XP_011544249.1:n.2754+80G>C
XM_011545948.2:c.1863+80G>C XP_011544250.1:n.1863+80G>C
XM_017023671.1:c.2754+80G>C XP_016879160.1:n.2754+80G>C
XM_017023672.2:c.2748+80G>C XP_016879161.1:n.2748+80G>C
XM_017023673.2:c.2748+80G>C XP_016879162.1:n.2748+80G>C
NM_024675.4:c.2748+80G>C MANE Select NP_078951.2:n.2748+80G>C