Canonical Allele Identifier: CA2213427785
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23634873A= , CM000678.2:g.23634873A= GRCh38
NC_000016.9:g.23646194A= , CM000678.1:g.23646194A= GRCh37
NC_000016.8:g.23553695A= NCBI36
NG_007406.1:g.11485T= , LRG_308:g.11485T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1679T= ENSP00000460666.3:p.Ile560=
ENST00000565038.2:c.211+2977T= ENSP00000459882.2:n.211+2977T=
ENST00000566069.6:c.1673T= ENSP00000459237.2:p.Ile558=
ENST00000697377.2:c.1679T= ENSP00000513286.2:p.Ile560=
ENST00000697379.2:c.1679T= ENSP00000513287.2:p.Ile560=
ENST00000561514.2:c.788T= ENSP00000460666.2:p.Ile263=
ENST00000697374.1:c.788T= ENSP00000513284.1:p.Ile263=
ENST00000697375.1:n.3020T=
ENST00000697376.1:c.788T= ENSP00000513285.1:p.Ile263=
ENST00000697377.1:c.788T= ENSP00000513286.1:p.Ile263=
ENST00000697378.1:n.2193T=
ENST00000697379.1:c.788T= ENSP00000513287.1:p.Ile263=
ENST00000697382.1:c.788T= ENSP00000513288.1:p.Ile263=
ENST00000697383.1:c.49-5598T= ENSP00000513289.1:n.49-5598T=
ENST00000697384.1:n.1827T=
ENST00000261584.9:c.1673T= MANE Select ENSP00000261584.4:p.Ile558=
ENST00000261584.8:c.1673T= ENSP00000261584.4:p.Ile558=
ENST00000565038.1:c.86+2977T=
ENST00000568219.5:c.788T= ENSP00000454703.2:p.Ile263=
NM_024675.3:c.1673T= , LRG_308t1:c.1673T= NP_078951.2:p.Ile558=
XM_011545946.1:c.1679T= XP_011544248.1:p.Ile560=
XM_011545947.1:c.1679T= XP_011544249.1:p.Ile560=
XM_011545948.1:c.788T= XP_011544250.1:p.Ile263=
XR_950851.1:n.2469T=
XM_011545946.2:c.1679T= XP_011544248.1:p.Ile560=
XM_011545947.2:c.1679T= XP_011544249.1:p.Ile560=
XM_011545948.2:c.788T= XP_011544250.1:p.Ile263=
XM_017023671.1:c.1679T= XP_016879160.1:p.Ile560=
XM_017023672.2:c.1673T= XP_016879161.1:p.Ile558=
XM_017023673.2:c.1673T= XP_016879162.1:p.Ile558=
NM_024675.4:c.1673T= MANE Select NP_078951.2:p.Ile558=