Canonical Allele Identifier: CA2213423641
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23630111T= , CM000678.2:g.23630111T= GRCh38
NC_000016.9:g.23641432T= , CM000678.1:g.23641432T= GRCh37
NC_000016.8:g.23548933T= NCBI36
NG_007406.1:g.16247A= , LRG_308:g.16247A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2049A= ENSP00000460666.3:p.Lys683=
ENST00000565038.2:c.212-836A= ENSP00000459882.2:n.212-836A=
ENST00000566069.6:c.2043A= ENSP00000459237.2:p.Lys681=
ENST00000697377.2:c.2049A= ENSP00000513286.2:p.Lys683=
ENST00000697379.2:c.2049A= ENSP00000513287.2:p.Lys683=
ENST00000561514.2:c.1158A= ENSP00000460666.2:p.Lys386=
ENST00000697374.1:c.1158A= ENSP00000513284.1:p.Lys386=
ENST00000697375.1:n.3390A=
ENST00000697376.1:c.1158A= ENSP00000513285.1:p.Lys386=
ENST00000697377.1:c.1158A= ENSP00000513286.1:p.Lys386=
ENST00000697378.1:n.2563A=
ENST00000697379.1:c.1158A= ENSP00000513287.1:p.Lys386=
ENST00000697380.1:n.971A=
ENST00000697381.1:n.738A=
ENST00000697382.1:c.1158A= ENSP00000513288.1:p.Lys386=
ENST00000697383.1:c.49-836A= ENSP00000513289.1:n.49-836A=
ENST00000697384.1:n.2197A=
ENST00000261584.9:c.2043A= MANE Select ENSP00000261584.4:p.Lys681=
ENST00000261584.8:c.2043A= ENSP00000261584.4:p.Lys681=
ENST00000565038.1:c.87-836A=
ENST00000568219.5:c.1158A= ENSP00000454703.2:p.Lys386=
NM_024675.3:c.2043A= , LRG_308t1:c.2043A= NP_078951.2:p.Lys681=
XM_011545946.1:c.2049A= XP_011544248.1:p.Lys683=
XM_011545947.1:c.2049A= XP_011544249.1:p.Lys683=
XM_011545948.1:c.1158A= XP_011544250.1:p.Lys386=
XR_950851.1:n.2839A=
XM_011545946.2:c.2049A= XP_011544248.1:p.Lys683=
XM_011545947.2:c.2049A= XP_011544249.1:p.Lys683=
XM_011545948.2:c.1158A= XP_011544250.1:p.Lys386=
XM_017023671.1:c.2049A= XP_016879160.1:p.Lys683=
XM_017023672.2:c.2043A= XP_016879161.1:p.Lys681=
XM_017023673.2:c.2043A= XP_016879162.1:p.Lys681=
NM_024675.4:c.2043A= MANE Select NP_078951.2:p.Lys681=