Canonical Allele Identifier: CA395143042
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 947626
ClinVar RCV Id: RCV001218738
dbSNP Id: rs1966771031

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621432T>G , CM000678.2:g.23621432T>G GRCh38
NC_000016.9:g.23632753T>G , CM000678.1:g.23632753T>G GRCh37
NC_000016.8:g.23540254T>G NCBI36
NG_007406.1:g.24926A>C , LRG_308:g.24926A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3049A>C ENSP00000460666.3:p.Thr1017Pro
ENST00000565038.2:c.*524A>C ENSP00000459882.2:n.*524A>C
ENST00000566069.6:c.3043A>C ENSP00000459237.2:p.Thr1015Pro
ENST00000697377.2:c.2887A>C ENSP00000513286.2:p.Thr963Pro
ENST00000697379.2:c.3049A>C ENSP00000513287.2:p.Thr1017Pro
ENST00000561514.2:c.2158A>C ENSP00000460666.2:p.Thr720Pro
ENST00000697374.1:c.2158A>C ENSP00000513284.1:p.Thr720Pro
ENST00000697375.1:n.4390A>C
ENST00000697376.1:c.2158A>C ENSP00000513285.1:p.Thr720Pro
ENST00000697377.1:c.1996A>C ENSP00000513286.1:p.Thr666Pro
ENST00000697378.1:n.3563A>C
ENST00000697379.1:c.2158A>C ENSP00000513287.1:p.Thr720Pro
ENST00000697380.1:n.2335A>C
ENST00000697381.1:n.1738A>C
ENST00000697382.1:c.2158A>C ENSP00000513288.1:p.Thr720Pro
ENST00000697383.1:c.577A>C ENSP00000513289.1:p.Thr193Pro
ENST00000261584.9:c.3043A>C MANE Select ENSP00000261584.4:p.Thr1015Pro
ENST00000261584.8:c.3043A>C ENSP00000261584.4:p.Thr1015Pro
ENST00000568219.5:c.2158A>C ENSP00000454703.2:p.Thr720Pro
NM_024675.3:c.3043A>C , LRG_308t1:c.3043A>C NP_078951.2:p.Thr1015Pro
XM_011545946.1:c.3049A>C XP_011544248.1:p.Thr1017Pro
XM_011545947.1:c.3049A>C XP_011544249.1:p.Thr1017Pro
XM_011545948.1:c.2158A>C XP_011544250.1:p.Thr720Pro
XR_950851.1:n.3839A>C
XM_011545946.2:c.3049A>C XP_011544248.1:p.Thr1017Pro
XM_011545947.2:c.3049A>C XP_011544249.1:p.Thr1017Pro
XM_011545948.2:c.2158A>C XP_011544250.1:p.Thr720Pro
XM_017023671.1:c.3049A>C XP_016879160.1:p.Thr1017Pro
XM_017023672.2:c.3043A>C XP_016879161.1:p.Thr1015Pro
XM_017023673.2:c.3043A>C XP_016879162.1:p.Thr1015Pro
NM_024675.4:c.3043A>C MANE Select NP_078951.2:p.Thr1015Pro