Canonical Allele Identifier: CA10579919
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 230789
dbSNP Id: rs876658773

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603662C>A , CM000678.2:g.23603662C>A GRCh38
NC_000016.9:g.23614983C>A , CM000678.1:g.23614983C>A GRCh37
NC_000016.8:g.23522484C>A NCBI36
NG_007406.1:g.42696G>T , LRG_308:g.42696G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.3364G>T ENSP00000460666.3:p.Glu1122Ter
ENST00000565038.2:c.*843G>T ENSP00000459882.2:n.*843G>T
ENST00000566069.6:c.3209G>T ENSP00000459237.2:p.Gly1070Val
ENST00000697377.2:c.3202G>T ENSP00000513286.2:p.Glu1068Ter
ENST00000697379.2:c.3364G>T ENSP00000513287.2:p.Glu1122Ter
ENST00000561514.2:c.2473G>T ENSP00000460666.2:p.Glu825Ter
ENST00000697374.1:c.2473G>T ENSP00000513284.1:p.Glu825Ter
ENST00000697375.1:n.4705G>T
ENST00000697376.1:c.2324G>T ENSP00000513285.1:p.Gly775Val
ENST00000697377.1:c.2311G>T ENSP00000513286.1:p.Glu771Ter
ENST00000697378.1:n.3878G>T
ENST00000697379.1:c.2473G>T ENSP00000513287.1:p.Glu825Ter
ENST00000697380.1:n.2562G>T
ENST00000697381.1:n.2053G>T
ENST00000697382.1:c.*135G>T ENSP00000513288.1:n.*135G>T
ENST00000697383.1:c.892G>T ENSP00000513289.1:p.Glu298Ter
ENST00000261584.9:c.3358G>T MANE Select ENSP00000261584.4:p.Glu1120Ter
ENST00000261584.8:c.3358G>T ENSP00000261584.4:p.Glu1120Ter
ENST00000566069.5:c.124G>T
ENST00000568219.5:c.2473G>T ENSP00000454703.2:p.Glu825Ter
NM_024675.3:c.3358G>T , LRG_308t1:c.3358G>T NP_078951.2:p.Glu1120Ter
XM_011545946.1:c.3364G>T XP_011544248.1:p.Glu1122Ter
XM_011545947.1:c.3215G>T XP_011544249.1:p.Gly1072Val
XM_011545948.1:c.2473G>T XP_011544250.1:p.Glu825Ter
XR_950851.1:n.4066G>T
XM_011545946.2:c.3364G>T XP_011544248.1:p.Glu1122Ter
XM_011545947.2:c.3215G>T XP_011544249.1:p.Gly1072Val
XM_011545948.2:c.2473G>T XP_011544250.1:p.Glu825Ter
XM_017023671.1:c.3127G>T XP_016879160.1:p.Glu1043Ter
XM_017023672.2:c.3121G>T XP_016879161.1:p.Glu1041Ter
XM_017023673.2:c.3209G>T XP_016879162.1:p.Gly1070Val
NM_024675.4:c.3358G>T MANE Select NP_078951.2:p.Glu1120Ter