Canonical Allele Identifier: CA395124000
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs2142371875

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23629664C>A , CM000678.2:g.23629664C>A GRCh38
NC_000016.9:g.23640985C>A , CM000678.1:g.23640985C>A GRCh37
NC_000016.8:g.23548486C>A NCBI36
NG_007406.1:g.16694G>T , LRG_308:g.16694G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2496G>T ENSP00000460666.3:p.Glu832Asp
ENST00000565038.2:c.212-389G>T ENSP00000459882.2:n.212-389G>T
ENST00000566069.6:c.2490G>T ENSP00000459237.2:p.Glu830Asp
ENST00000697377.2:c.2496G>T ENSP00000513286.2:p.Glu832Asp
ENST00000697379.2:c.2496G>T ENSP00000513287.2:p.Glu832Asp
ENST00000561514.2:c.1605G>T ENSP00000460666.2:p.Glu535Asp
ENST00000697374.1:c.1605G>T ENSP00000513284.1:p.Glu535Asp
ENST00000697375.1:n.3837G>T
ENST00000697376.1:c.1605G>T ENSP00000513285.1:p.Glu535Asp
ENST00000697377.1:c.1605G>T ENSP00000513286.1:p.Glu535Asp
ENST00000697378.1:n.3010G>T
ENST00000697379.1:c.1605G>T ENSP00000513287.1:p.Glu535Asp
ENST00000697380.1:n.1418G>T
ENST00000697381.1:n.1185G>T
ENST00000697382.1:c.1605G>T ENSP00000513288.1:p.Glu535Asp
ENST00000697383.1:c.49-389G>T ENSP00000513289.1:n.49-389G>T
ENST00000697384.1:n.2644G>T
ENST00000261584.9:c.2490G>T MANE Select ENSP00000261584.4:p.Glu830Asp
ENST00000261584.8:c.2490G>T ENSP00000261584.4:p.Glu830Asp
ENST00000565038.1:c.87-389G>T
ENST00000568219.5:c.1605G>T ENSP00000454703.2:p.Glu535Asp
NM_024675.3:c.2490G>T , LRG_308t1:c.2490G>T NP_078951.2:p.Glu830Asp
XM_011545946.1:c.2496G>T XP_011544248.1:p.Glu832Asp
XM_011545947.1:c.2496G>T XP_011544249.1:p.Glu832Asp
XM_011545948.1:c.1605G>T XP_011544250.1:p.Glu535Asp
XR_950851.1:n.3286G>T
XM_011545946.2:c.2496G>T XP_011544248.1:p.Glu832Asp
XM_011545947.2:c.2496G>T XP_011544249.1:p.Glu832Asp
XM_011545948.2:c.1605G>T XP_011544250.1:p.Glu535Asp
XM_017023671.1:c.2496G>T XP_016879160.1:p.Glu832Asp
XM_017023672.2:c.2490G>T XP_016879161.1:p.Glu830Asp
XM_017023673.2:c.2490G>T XP_016879162.1:p.Glu830Asp
NM_024675.4:c.2490G>T MANE Select NP_078951.2:p.Glu830Asp