Canonical Allele Identifier: CA2213423521
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23630097C= , CM000678.2:g.23630097C= GRCh38
NC_000016.9:g.23641418C= , CM000678.1:g.23641418C= GRCh37
NC_000016.8:g.23548919C= NCBI36
NG_007406.1:g.16261G= , LRG_308:g.16261G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2063G= ENSP00000460666.3:p.Arg688=
ENST00000565038.2:c.212-822G= ENSP00000459882.2:n.212-822G=
ENST00000566069.6:c.2057G= ENSP00000459237.2:p.Arg686=
ENST00000697377.2:c.2063G= ENSP00000513286.2:p.Arg688=
ENST00000697379.2:c.2063G= ENSP00000513287.2:p.Arg688=
ENST00000561514.2:c.1172G= ENSP00000460666.2:p.Arg391=
ENST00000697374.1:c.1172G= ENSP00000513284.1:p.Arg391=
ENST00000697375.1:n.3404G=
ENST00000697376.1:c.1172G= ENSP00000513285.1:p.Arg391=
ENST00000697377.1:c.1172G= ENSP00000513286.1:p.Arg391=
ENST00000697378.1:n.2577G=
ENST00000697379.1:c.1172G= ENSP00000513287.1:p.Arg391=
ENST00000697380.1:n.985G=
ENST00000697381.1:n.752G=
ENST00000697382.1:c.1172G= ENSP00000513288.1:p.Arg391=
ENST00000697383.1:c.49-822G= ENSP00000513289.1:n.49-822G=
ENST00000697384.1:n.2211G=
ENST00000261584.9:c.2057G= MANE Select ENSP00000261584.4:p.Arg686=
ENST00000261584.8:c.2057G= ENSP00000261584.4:p.Arg686=
ENST00000565038.1:c.87-822G=
ENST00000568219.5:c.1172G= ENSP00000454703.2:p.Arg391=
NM_024675.3:c.2057G= , LRG_308t1:c.2057G= NP_078951.2:p.Arg686=
XM_011545946.1:c.2063G= XP_011544248.1:p.Arg688=
XM_011545947.1:c.2063G= XP_011544249.1:p.Arg688=
XM_011545948.1:c.1172G= XP_011544250.1:p.Arg391=
XR_950851.1:n.2853G=
XM_011545946.2:c.2063G= XP_011544248.1:p.Arg688=
XM_011545947.2:c.2063G= XP_011544249.1:p.Arg688=
XM_011545948.2:c.1172G= XP_011544250.1:p.Arg391=
XM_017023671.1:c.2063G= XP_016879160.1:p.Arg688=
XM_017023672.2:c.2057G= XP_016879161.1:p.Arg686=
XM_017023673.2:c.2057G= XP_016879162.1:p.Arg686=
NM_024675.4:c.2057G= MANE Select NP_078951.2:p.Arg686=